Charcot-Marie-Tooth Disease Caused by Mutation in DNM2

Charcot-Marie-Tooth disease caused by mutation in DNM2 is a rare, inherited nerve disease that slowly damages the long nerves of the arms and legs. These nerves control movement and feeling in the hands and feet. The disease is usually autosomal dominant, which means a person needs only one changed copy of the gene to be affected, and it can pass from an affected parent to a child. The DNM2 gene gives instructions for making dynamin-2, a protein that helps cells handle their outer membrane and take in materials through a process called clathrin-mediated endocytosis. When DNM2 is mutated, this process does not work properly in nerve cells and Schwann cells (the cells that make myelin, the covering around nerves). Over time, this leads to weakness, muscle wasting, loss of feeling, foot deformities, and difficulty walking. Different DNM2 mutations can cause dominant intermediate CMT type B (CMTDIB) or axonal CMT type 2M (CMT2M), and the nerve tests show changes that are in-between demyelinating and axonal types or clearly axonal. Frontiers+3PubMed+3MalaCards+3

Charcot-Marie-Tooth (CMT) disease is a group of inherited nerve disorders that slowly damage the peripheral nerves in the legs, feet, hands, and arms. In some people, CMT is caused by a change (mutation) in a gene called DNM2 (dynamin-2). This form is often called dominant intermediate CMT type B or DNM2-related CMT. It usually causes weakness and wasting of the muscles of the feet and lower legs, high arches, hammertoes, and trouble with balance and walking. Charcot-Marie-Tooth Association+1

DNM2 is a protein that helps nerve cells move and recycle parts of their outer membrane. When the DNM2 gene is mutated, the protein does not work properly. This can disturb the way long peripheral nerves transport nutrients and signals. Over time, this slow damage leads to muscle weakness, loss of reflexes, numbness, and tingling. The disease is usually inherited in an autosomal dominant pattern, which means one changed copy of the gene is enough to cause the condition. PubMed+1

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Other names

Charcot-Marie-Tooth disease caused by mutation in DNM2 is known by several other names in medical books and genetics databases. It is often called Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB), which highlights that the conduction speed of the nerves is in the “intermediate” range, not clearly very slow (demyelinating) and not completely normal (purely axonal). It may also be listed as dominant intermediate Charcot-Marie-Tooth neuropathy type B, Charcot-Marie-Tooth neuropathy, dominant intermediate B, or simply DNM2-related CMT. Some sources group it under Charcot-Marie-Tooth disease, axonal, type 2M (CMT2M), because certain DNM2 mutations mainly damage the nerve fiber (axon) rather than the myelin. Older or alternative labels in genetic resources include CMTDI1, CMTDI-B, and “Charcot-Marie-Tooth disease caused by mutation in DNM2,” which directly describes the cause. All these names refer to the same general group of hereditary motor and sensory neuropathies linked to pathogenic changes in the DNM2 gene. NCBI+2MalaCards+2

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Types of DNM2-related Charcot-Marie-Tooth disease

1. Dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB)
   In this type, nerve conduction studies show intermediate motor nerve conduction velocities, meaning the signals travel not as slowly as in classic demyelinating CMT1, but slower than normal. Clinically, people have slowly progressive weakness in the feet and lower legs, foot deformities like high arches, and later weakness in the hands. CMTDIB is the most typical and best-described form of DNM2-related CMT, and it follows an autosomal dominant pattern. PubMed+2MalaCards+2

2. Axonal Charcot-Marie-Tooth disease type 2M (CMT2M)
   Some DNM2 mutations cause a mainly axonal neuropathy, meaning the long nerve fibers themselves are damaged while myelin appears relatively preserved on testing. In CMT2M, nerve conduction speeds may be near normal, but the strength of the signal is reduced, showing loss of axons. Patients show similar symptoms of distal weakness and sensory loss, but the electrodiagnostic pattern is more purely axonal. International Online Medical Council+2ResearchGate+2

3. CMT with combined neuropathy and myopathy features
   A few patients with DNM2 mutations show a mixture of peripheral neuropathy and chronic myopathy, meaning that both nerves and muscles are affected. Muscle biopsies may reveal myopathic changes, while nerve studies show axonal loss or intermediate findings. This overlap can make diagnosis more complex, because DNM2 mutations are also known to cause centronuclear myopathy, and some patients sit between these two conditions. PubMed+2PMC+2

4. Early-onset vs. later-onset DNM2-related CMT
   Age at onset can vary widely. Some individuals develop symptoms in childhood or adolescence, while others present in adulthood. This variation is influenced by the exact DNM2 variant and other genetic or environmental modifiers. Early-onset patients may have more pronounced foot deformities and earlier walking difficulties, while those with later onset may notice gradual weakness and numbness in their 20s, 30s, or later. PubMed+2MalaCards+2

5. Forms with extra-neurologic features (cataracts, neutropenia)
   Certain DNM2 mutations associated with CMT have been reported together with early-onset cataracts or asymptomatic neutropenia (low neutrophil count) in some families. These features are not present in every patient but show that DNM2-related disease can sometimes affect other organs, such as the lens of the eye or blood cells, in addition to the peripheral nerves. MalaCards+2PubMed+2

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Causes

Although there is one main cause—a disease-causing mutation in the DNM2 gene—research describes many related mechanisms and factors that explain how this mutation leads to nerve damage and different disease patterns.

1. Pathogenic DNM2 gene mutation
   The core cause is a pathogenic variant in the DNM2 gene, which changes the structure or function of the dynamin-2 protein. These mutations are usually missense (one amino acid is swapped for another) and are sufficient by themselves to cause disease in an autosomal dominant manner. PubMed+2OUP Academic+2

2. Autosomal dominant inheritance
   Most DNM2-related CMT cases show autosomal dominant inheritance, meaning that a person with one mutant and one normal DNM2 gene has a 50% chance of passing the disease variant to each child. The disease often runs in multiple generations of a family. NCBI+2MalaCards+2

3. Mutations in the pleckstrin homology (PH) domain
   Many CMTDIB mutations cluster in the PH domain of dynamin-2, a region important for binding to cell membranes. When this domain is altered, the protein cannot properly attach to membranes and carry out endocytosis, which disrupts nerve cell function and myelination. MalaCards+2OUP Academic+2

4. Mutations in the middle domain of dynamin-2
   Some CMT-related variants sit in the middle domain, which helps dynamin-2 self-assemble into spirals around membrane necks. Mutations here can disturb this assembly and change how the protein cuts off vesicles from the cell membrane, harming Schwann cells and neurons. PubMed+1

5. Gain-of-function effect on dynamin-2 activity
   Functional studies suggest that many DNM2 CMT variants produce a gain-of-function, meaning the protein becomes overactive or behaves in an abnormal way, rather than simply losing its job. This abnormal activity can interfere with normal membrane trafficking and endocytosis in nerve cells. PubMed+2ResearchGate+2

6. Defective clathrin-mediated endocytosis in Schwann cells
   Dynamin-2 is crucial for clathrin-mediated endocytosis, the main pathway by which cells internalize receptors and other membrane proteins. In experimental models, CMT-related DNM2 mutants disrupt this process in Schwann cells, leading to abnormal levels of surface proteins and disturbed cell signaling. PubMed+2ResearchGate+2

7. Impaired myelination of peripheral nerves
   Studies in mice show that DNM2 is required for proper myelination of peripheral nerves. When DNM2 function is altered, Schwann cells cannot form or maintain normal myelin, which results in slower nerve conduction and vulnerability of axons. PubMed+2ResearchGate+2

8. Axonal degeneration due to altered membrane trafficking
   Neurons rely on careful transport of membranes and proteins along their long axons. Abnormal dynamin-2 can disturb this trafficking, leading over time to axonal degeneration, especially in the longest nerves that go to the feet and hands. This explains why symptoms start at the distal limbs. International Online Medical Council+2ScienceDirect+2

9. Abnormal interaction with binding partners such as BIN1
   Dynamin-2 interacts with proteins like BIN1 (amphiphysin 2), which also shape membranes. Recent work in DNM2-CMT mouse models shows that changing BIN1 levels can worsen or improve disease, suggesting that abnormal protein–protein interactions contribute to nerve damage. PNAS+1

10. Specific “CMT-type” vs “myopathy-type” DNM2 mutations
    Some DNM2 mutations tend to cause CMT, while others cause centronuclear myopathy. These different mutations likely change dynamin-2 behavior in distinct ways in nerves vs muscles. This “mutation-specific” effect is another reason for disease in CMT patients with the “CMT-type” variants. PubMed+2PMC+2

11. De novo (new) mutations in DNM2
    In some affected individuals, the DNM2 variant is de novo, meaning it appears for the first time in that person and is not present in the parents. This new mutation still acts in a dominant way and can be passed to the next generation. PubMed+2Frontiers+2

12. Parental mosaicism
    Rarely, a parent may have mosaicism, where only some of their cells carry the DNM2 mutation. They may be mildly affected or even appear healthy but can have children with full disease. This subtle genetic pattern is another way DNM2 mutations can be passed in families. Frontiers+1

13. Genetic background and modifier genes
    Other genes in the patient’s genome can act as modifiers, making DNM2-related CMT more severe or milder. For example, variants that affect myelin stability, mitochondrial function, or axonal transport can interact with DNM2 defects and influence how quickly nerve damage progresses. PubMed+2pfmjournal.org+2

14. Age-related cumulative nerve stress
    Even with the same mutation, older individuals may show more severe weakness and sensory loss than younger ones. This is because nerves face cumulative stress over time, and the abnormal DNM2 function gradually leads to more axonal loss and muscle wasting as the years pass. PubMed+2pfmjournal.org+2

15. Mechanical and postural stress on already fragile nerves
    Daily mechanical loads, such as long walking distances, poorly fitting footwear, or repeated ankle sprains, may not cause the disease by themselves but can worsen symptoms in people with DNM2 mutations. The nerves and muscles are already fragile, so added physical stress may accelerate weakness and deformity. pfmjournal.org+1

16. Metabolic or systemic stress on peripheral nerves
    Co-existing problems like diabetes, vitamin deficiencies, or thyroid disease can harm nerves and may worsen the clinical picture of someone who already has DNM2-related CMT. They do not cause the genetic disease, but they act as secondary stressors on damaged nerves. pfmjournal.org+2balkanmedicaljournal.org+2

17. Overlap with DNM2-related centronuclear myopathy
    Because DNM2 also causes centronuclear myopathy, some patients have combined muscle and nerve pathology. The presence of myopathy can increase weakness and fatigue, making the neuropathy appear more severe, even though the root genetic cause is still the DNM2 mutation. PMC+2ScienceDirect+2

18. Rare recessive DNM2-related disorders
    DNM2 can also be involved in rare recessive conditions such as lethal congenital contracture syndrome 5, where two mutated copies are needed. While this is not the same as CMTDIB or CMT2M, it shows that the same gene can cause different diseases, underlining how sensitive cells are to changes in dynamin-2. deciphergenomics.org+1

19. Incomplete penetrance and variable expressivity
    Some people with a DNM2 mutation may have mild or almost no symptoms, while relatives with the same mutation are clearly affected. This phenomenon, called incomplete penetrance and variable expressivity, suggests that additional unknown factors influence how strongly the DNM2 mutation shows itself. PubMed+2MalaCards+2

20. Currently unknown or undiscovered DNM2 variants and mechanisms
    New DNM2 variants and mechanisms continue to be reported in the medical literature. Ongoing research in humans and mouse models shows that DNM2 has complex roles in nerve and muscle cells, and future discoveries will likely expand the list of known disease-causing mechanisms. International Online Medical Council+2ResearchGate+2

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Symptoms

1. Slowly progressive weakness in the feet and lower legs
   The most common early sign is weakness in the distal leg muscles, especially those that lift the foot. People may notice difficulty running, climbing stairs, or walking on heels. Over years, this weakness slowly worsens. MalaCards+2pfmjournal.org+2

2. Foot drop and steppage gait
   Because the muscles that lift the front of the foot are weak, the toes may drag on the ground, causing foot drop. To avoid tripping, the person lifts the knee higher when walking, creating a “steppage” gait. pfmjournal.org+2Muscular Dystrophy Association+2

3. High-arched feet (pes cavus) and hammer toes
   Many patients develop pes cavus, a very high arch, and hammer toes, where the toes bend abnormally. These deformities result from uneven muscle strength around the foot and ankle and are common in inherited neuropathies like DNM2-related CMT. MalaCards+2pfmjournal.org+2

4. Weakness in the hands and lower arms
   Over time, the disease can affect the small muscles of the hands, leading to difficulty with fine tasks such as buttoning clothes, writing, or opening jars. Grip strength may decrease, and the hands can appear thinner. MalaCards+2pfmjournal.org+2

5. Numbness and reduced feeling in the feet and hands
   Sensory nerves are also involved, so patients often report numbness, reduced ability to feel light touch, vibration, or position of the toes, and sometimes a “cotton” or “stocking” feeling in the feet. MalaCards+2pfmjournal.org+2

6. Pins-and-needles or burning sensations
   Some people experience tingling, pins-and-needles, or burning pain in the feet and, later, in the hands. This neuropathic pain comes from damaged sensory nerve fibers sending abnormal signals to the brain. pfmjournal.org+2Muscular Dystrophy Association+2

7. Reduced or absent deep tendon reflexes
   On neurological exam, doctors often find that the knee and ankle reflexes are decreased or absent. This change is typical for chronic peripheral neuropathy and reflects disrupted connections between sensory and motor fibers. MalaCards+2pfmjournal.org+2

8. Muscle wasting in the calves and hands
   Because the nerves cannot properly stimulate muscles, the affected muscles slowly shrink (atrophy). This is especially visible in the calves, which can look “inverted bottle-shaped,” and in the small muscles between the bones of the hand. MalaCards+2pfmjournal.org+2

9. Unsteady walking and balance problems
   Loss of strength and sensation in the feet makes balance more difficult, especially in the dark or on uneven ground. Patients may sway when standing with their eyes closed or feel insecure when walking on narrow paths. pfmjournal.org+2Muscular Dystrophy Association+2

10. Frequent tripping or ankle sprains
    Foot drop, weak ankle muscles, and poor sensation increase the risk of tripping and ankle sprains. Some people need ankle-foot orthoses (braces) to support the ankles and reduce falls. pfmjournal.org+1

11. Fatigue with walking or standing
    Because the muscles are weak and less efficient, people with DNM2-related CMT may tire easily, especially when walking long distances or standing for long periods. Fatigue can be an important limiting symptom even when strength loss is mild. pfmjournal.org+2Muscular Dystrophy Association+2

12. Hand clumsiness and difficulty with fine motor tasks
    As hand involvement progresses, patients may drop objects, struggle with small buttons, or feel clumsy in everyday tasks. This can impact school, work, and hobbies that require precision. MalaCards+2pfmjournal.org+2

13. Mild scoliosis or posture changes
    Some individuals develop spinal curvature (scoliosis) or changes in posture due to long-standing muscle imbalance. This is not unique to DNM2-related CMT but can appear in several hereditary neuropathies. pfmjournal.org+2Muscular Dystrophy Association+2

14. Possible early-onset cataracts in some families
    In a subset of patients with DNM2 mutations causing CMT, early-onset cataracts (clouding of the lens) have been described. These usually occur in adulthood and may require surgery but are not present in every case. MalaCards+2Frontiers+2

15. Possible mild neutropenia in some patients
    A few families with DNM2-related CMT have been reported with mild neutropenia, a slightly low white blood cell count. This is usually asymptomatic but is another sign that DNM2 can affect other tissues besides nerves. MalaCards+1

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Diagnostic tests

Doctors diagnose DNM2-related CMT by combining the patient’s story, physical examination, nerve tests, and genetic testing. The tests below are grouped by type but all work together to build a clear picture.

Physical examination tests

1. Comprehensive neurological examination
   The doctor checks overall strength, muscle size, tone, reflexes, and sensation from head to toe. In DNM2-related CMT, this exam often shows distal weakness, muscle wasting in the calves and hands, reduced or absent ankle reflexes, and decreased vibration or pin-prick sensation in the feet. MalaCards+2pfmjournal.org+2

2. Focused muscle strength testing of legs and feet
   Strength is often graded using a standard scale (such as the Medical Research Council scale) in specific muscle groups: ankle dorsiflexion, plantarflexion, toe extension, and knee movements. DNM2-CMT usually shows prominent weakness of ankle dorsiflexion (foot-lifting muscles), explaining foot drop and gait problems. MalaCards+2pfmjournal.org+2

3. Sensory examination of feet and hands
   The doctor tests light touch, pin-prick, vibration, and joint-position sense using tools like cotton wisp, pin, tuning fork, and passive joint movement. In DNM2-related CMT, there is often a “stocking-glove” pattern of sensory loss, more marked in the feet than in the hands. MalaCards+2pfmjournal.org+2

4. Reflex testing (deep tendon reflexes)
   Reflexes at the knees and ankles are tested with a small hammer. In many patients, ankle reflexes are reduced or absent, which is a typical finding in hereditary motor and sensory neuropathies like CMTDIB and CMT2M. MalaCards+2pfmjournal.org+2

5. Gait and posture assessment
   The clinician watches the patient walk, run, and perform heel and toe walking. They also examine posture and look for scoliosis. In DNM2-related CMT, a high-stepping “steppage” gait, ankle instability, and difficulty walking on heels are common signs. pfmjournal.org+2Muscular Dystrophy Association+2

Manual and functional tests

6. Manual muscle testing (MMT) of distal muscles
   The examiner uses their own hands to resist movements at the ankle, toes, and fingers and grades the patient’s effort. This manual muscle testing helps document which muscles are weakest and track progression over time in a simple, low-tech way. pfmjournal.org+1

7. Evaluation of foot deformities (pes cavus and hammer toes)
   The clinician visually inspects the feet and gently moves the joints to assess flexibility and deformities. Recognizing typical CMT-type foot shapes helps support the diagnosis and plan for orthotics or surgery if needed. MalaCards+2pfmjournal.org+2

8. Timed 10-meter walk or 6-minute walk test
   Simple walking tests measure speed and endurance by timing how long it takes to walk a fixed distance or how far a person can walk in six minutes. These tests do not diagnose CMT on their own but show how much the neuropathy limits function and how this changes over time. pfmjournal.org+2Muscular Dystrophy Association+2

9. Balance tests (Romberg and single-leg stance)
   The Romberg test is done by asking the patient to stand with feet together, first with eyes open and then closed. Balance tests can reveal sensory ataxia due to loss of position sense in the feet, a common problem in hereditary neuropathies. pfmjournal.org+2Muscular Dystrophy Association+2

10. Hand function tests (such as peg tests or handwriting tasks)
    Simple hand function tasks—like placing pegs into holes, buttoning, or writing—can show subtle weakness and clumsiness. These tests are useful in following progression and understanding daily life impact in patients with hand involvement. MalaCards+2pfmjournal.org+2

Laboratory and pathological tests

11. Basic blood tests to exclude acquired neuropathies
    Blood tests such as blood glucose, vitamin B12 level, thyroid function tests, and kidney and liver function help rule out acquired causes of neuropathy. In pure DNM2-related CMT, these tests are usually normal, which supports a hereditary cause. pfmjournal.org+2balkanmedicaljournal.org+2

12. Complete blood count (CBC) with differential
    A CBC can detect neutropenia or other blood cell changes. As some DNM2-related CMT cases report mild neutropenia, this test can provide additional clues and is also important for general health monitoring. MalaCards+1

13. Serum protein electrophoresis and immunofixation
    These tests look for abnormal proteins (paraproteins) that can cause acquired neuropathies. In DNM2-related CMT, these are usually negative, helping to exclude other treatable causes of neuropathy and strengthening the case for a hereditary disorder. pfmjournal.org+2balkanmedicaljournal.org+2

14. Creatine kinase (CK) level
    CK is an enzyme released from damaged muscle. In pure neuropathy, CK is usually normal or only mildly raised, but if there is overlapping myopathy due to the DNM2 mutation, CK may be elevated. This test helps identify patients with combined nerve and muscle involvement. PubMed+2PMC+2

15. Nerve or muscle biopsy in selected cases
    A small sample of nerve or muscle may be taken when the diagnosis remains uncertain. Biopsy in DNM2-related disease can show features of chronic axonal neuropathy in nerves or centronuclear/myopathic changes in muscle, confirming the pattern but is used less often now that genetic testing is widely available. PubMed+2PMC+2

Electrodiagnostic tests

16. Nerve conduction studies (NCS)
    NCS measure how fast and how strongly electrical signals travel along nerves. In DNM2-related CMT, results often show intermediate conduction velocities and reduced amplitudes (CMTDIB) or a mainly axonal pattern with near-normal speeds but low amplitudes (CMT2M). These findings place the disease between classic demyelinating and axonal CMT types or in the axonal group, depending on the mutation. MalaCards+2Muscular Dystrophy Association+2

17. Electromyography (EMG)
    EMG uses a small needle electrode inserted into muscles to record electrical activity. In DNM2-related CMT, EMG often shows chronic denervation and reinnervation, meaning motor units are larger and fewer, reflecting long-standing nerve damage. EMG helps confirm that weakness is neurogenic rather than purely myopathic. MalaCards+2pfmjournal.org+2

18. Late responses and other specialized nerve tests
    Tests such as F-waves or H-reflexes assess conduction in proximal segments of nerves and spinal reflex pathways. In CMT, these late responses may be delayed or absent, which further supports the presence of a generalized hereditary neuropathy rather than a focal nerve problem. pfmjournal.org+2Muscular Dystrophy Association+2

Imaging tests

19. MRI of leg muscles
    Magnetic resonance imaging (MRI) of the lower limbs can show a pattern of muscle fatty replacement and atrophy that matches chronic denervation. In DNM2-related disease, MRI studies have documented selective involvement of certain muscle groups, which can help distinguish it from other neuromuscular disorders and provide structural support for the diagnosis. MalaCards+2PubMed+2

20. Ultrasound or MRI of peripheral nerves
    High-resolution nerve ultrasound or MRI can visualize nerve size and structure. In hereditary neuropathies, nerves may be mildly enlarged or show characteristic changes. While not specific for DNM2-related CMT, these imaging tests give additional information and may be useful alongside electrodiagnostic and genetic testing. pfmjournal.org+2Muscular Dystrophy Association+2

Non-pharmacological treatments

1. Disease education and self-management
Learning about DNM2-related CMT, its slow course, and common problems helps you and your family make calm, informed decisions. Good education explains how the disease affects nerves and muscles, what to expect over time, and which symptoms need urgent review. Understanding the condition reduces fear, guides healthy activity levels, and encourages early use of braces or therapy instead of waiting until walking is very hard. Education is usually given by neurologists, physiotherapists, and genetic counselors in simple language during clinic visits and in written or online materials. PMC+1

2. Physical therapy and stretching exercises
Regular physical therapy is one of the most important treatments for CMT. A physiotherapist designs gentle programs of stretching, strengthening, balance, and aerobic exercise. Stretching keeps joints loose and reduces the risk of contractures (stiff, fixed joints). Light strengthening helps maintain the power of muscles that are not yet severely weak, without over-fatiguing them. Aerobic exercise, such as cycling or swimming, supports heart and lung health. The main purpose is to keep you mobile and independent for as long as possible and to slow down secondary problems like shortened tendons and tight calves. Physiopedia+1

3. Strength training with low to moderate resistance
Low-load strength training can be safe in CMT when guided by a therapist. The goal is not bodybuilding but gently training muscles that still have good nerve supply. Exercises may involve resistance bands, light weights, or body-weight activities like sit-to-stand. Short sets with adequate rests help avoid overwork weakness. The mechanism is the usual training of muscle fibers and improved nerve-muscle communication in fibers that are still functioning. Over time this may help maintain walking speed and ability to climb stairs, and reduce the feeling of “legs giving way” during daily activity. PMC+1

4. Balance and gait training
Because CMT affects the small muscles in the feet and ankles, balance can become poor, and falls are common. A physiotherapist can teach balance tasks, such as standing on different surfaces, step-training, and safe turning techniques. They also work on gait training, including foot placement, pacing, and turning while using a cane or walker if needed. This training improves the way the brain uses remaining sensory information and vision to stay upright. The purpose is to lower fall risk, increase confidence, and make walking safer in everyday places like stairs, bathrooms, and streets. Physiopedia+1

5. Ankle–foot orthoses (AFOs) and foot-drop braces
Many people with DNM2-related CMT develop foot drop, where the front of the foot drags while walking. Ankle–foot orthoses (AFOs) are plastic or carbon-fiber braces worn in the shoe to hold the foot at a safe angle. This helps clear the toes from the floor and reduces tripping. Some devices use hinges or springs to allow controlled ankle movement. The main mechanism is simple mechanical support: the brace replaces lost muscle power. Over time, AFOs can reduce fatigue, improve walking speed, and prevent ankle sprains and falls. Physiopedia+1

6. Custom footwear and insoles
High arches and hammertoes are common in CMT. They can cause pressure points, calluses, and pain. Custom shoes and insoles spread pressure more evenly across the foot, support the arch, and improve alignment. Rocker-bottom soles can help with push-off when calf muscles are weak. The purpose is to protect the skin, reduce pain, and make walking more energy-efficient. The mechanism is again mechanical: shoes and insoles change how forces travel through the foot to compensate for weak and imbalanced muscles. ScienceDirect

7. Occupational therapy for hand and daily activities
Occupational therapists help with hand weakness, clumsiness, and fatigue during daily activities like dressing, writing, or using a phone. They may suggest adaptive tools such as larger-grip pens, button hooks, and special cutlery. They also teach joint protection and energy-saving skills. The purpose is to keep you independent at school, work, and home. The mechanism is not changing the disease, but changing how tasks are done so that weak muscles and numb fingers are less stressed and more effective. ScienceDirect

8. Assistive walking devices (cane, crutches, walker)
As balance and strength decline, a cane, forearm crutches, or a walker can make walking much safer. These devices add a new “point of support” so the body is less likely to sway or fall. They also share some of the load from weak legs with the arms and upper body. Choosing the right device and height is important and should be guided by a therapist. The purpose is to reduce falls and injuries, keep you mobile, and extend the time you can move independently in the community. ScienceDirect

9. Podiatry and regular foot care
Because sensation is reduced, small injuries on the feet can be missed and may become ulcers or infections. Regular visits to a podiatrist help keep nails trimmed, corns removed, and skin protected. Education about daily foot checks, moisturizing dry skin, and choosing safe shoes is also vital. The mechanism is prevention: early treatment of minor problems stops them from becoming serious. This is especially important in people who also have diabetes or poor circulation, which add extra risk. ScienceDirect

10. Cognitive-behavioural therapy (CBT) and pain coping skills
Chronic neuropathic pain, fatigue, and disability can cause anxiety, low mood, and sleep problems. Cognitive-behavioural therapy teaches practical ways to adjust thoughts and behaviours around pain. It may include pacing activities, relaxation, and problem-solving. The purpose is not to say the pain is “in your head,” but to strengthen your ability to live a meaningful life despite pain. The mechanism is through changes in attention, emotion, and behaviour, which can reduce the brain’s perception of pain intensity and improve quality of life. PMC

11. Fatigue management and energy conservation
People with CMT often feel tired because walking and standing use more effort. Occupational therapists teach “energy conservation” skills such as planning tasks, sitting when possible, using rolling carts, and taking regular short rests instead of pushing until exhausted. The purpose is to spread limited energy across the day so that important activities like school, work, and family time are still possible. The mechanism is simply reducing the total energy cost of activities so that muscles and nerves are not over-worked. ScienceDirect

12. Home and environment modification
Simple changes at home can greatly reduce fall risk. These include removing loose rugs, improving lighting, adding grab bars in bathrooms, using non-slip mats, and installing railings on both sides of stairs. Sometimes ramps or stairlifts are needed. The purpose is to match the home to the person’s abilities, rather than forcing the person to struggle with an unsafe environment. The mechanism is straightforward: fewer hazards and better supports lead to fewer falls and injuries. ScienceDirect

13. Vocational and school rehabilitation
DNM2-related CMT may limit some types of jobs or schooling that require heavy physical work or long standing. Vocational rehabilitation specialists help choose or adjust work so it is safer and more sustainable. They may suggest ergonomic chairs, footrests, or changes in duties. At school, extra time for walking between classes, elevator access, or laptop use may be needed. The purpose is to protect health and keep people engaged in meaningful study and employment. ScienceDirect

14. Genetic counseling and family planning
Because DNM2-related CMT is usually autosomal dominant, each child of an affected person has a 50% chance of inheriting the mutation. Genetic counseling explains this risk in simple language and discusses options such as testing of at-risk relatives and reproductive choices (for example, prenatal or pre-implantation genetic testing where available and ethically acceptable). The purpose is informed decision-making, not telling families what to do. The mechanism is education about inheritance patterns, laboratory testing methods, and emotional support. PubMed+1

15. Regular follow-up in a neuromuscular clinic
CMT is slowly progressive, so needs change over time. Regular visits with a neurologist and multidisciplinary team allow early detection of new problems, such as worsening foot deformity, new pain, or scoliosis. Team members can adjust braces, change therapy plans, or review medicines. The purpose is continuous, proactive care rather than reacting only when a crisis occurs. The mechanism is ongoing monitoring and early intervention, which helps maintain function and prevent avoidable complications. PMC+1

16. Respiratory assessment and therapy (when needed)
Most people with DNM2-related CMT do not have major breathing problems, but some forms of CMT can affect the muscles between the ribs or the diaphragm. If shortness of breath, poor sleep, or morning headaches appear, a respiratory evaluation may be needed. Breathing exercises, coughing aids, or non-invasive ventilation at night may help in rare advanced cases. The purpose is to maintain oxygen and carbon dioxide balance and avoid chest infections. PMC+1

17. Hydrotherapy and aquatic exercise
Exercise in warm water is gentle on joints and weak muscles. The water supports body weight, making it easier to move and practice walking or balance activities. Hydrotherapy can improve cardiovascular fitness, reduce stiffness, and boost mood. The mechanism is buoyancy and resistance provided by water, which allows safer training at a lower risk of falls. It is especially helpful for people who struggle with land-based exercise because of severe foot deformities or joint pain. Physiopedia

18. Functional electrical stimulation (FES)
In some cases of foot drop, small devices can deliver mild electrical pulses to the nerves of the lower leg, causing the foot to lift during walking. This is called functional electrical stimulation. The purpose is similar to AFOs: prevent tripping and improve walking pattern. The mechanism is that the electrical pulse replaces part of the lost nerve signal. FES does not repair the underlying genetic problem but can provide a more natural-feeling gait for some people. ScienceDirect

19. Psychological counseling and peer support groups
Living with a chronic inherited nerve disease can be emotionally heavy. Psychological counseling offers a safe place to talk about fear, guilt, anger, or sadness. Support groups, in person or online, allow people with CMT and their families to share tips and feel less alone. The purpose is to support mental health, which is just as important as physical health. The mechanism is emotional validation, coping skills, and social support, all of which are proven to reduce distress in chronic illness. PMC+1

20. Sleep hygiene and management of sleep problems
Pain, cramps, and anxiety can disturb sleep in CMT. Good sleep habits include regular bedtimes, a quiet, dark room, avoiding caffeine late in the day, and limiting screen time before bed. Doctors may also treat restless legs or sleep apnea if present. The purpose is better quality sleep, which improves daytime energy, mood, and pain tolerance. The mechanism is a mix of behavioural changes and, if needed, treatment of specific sleep disorders that commonly coexist with chronic neurological conditions. PMC

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Drug treatments

Important: No medicine currently cures DNM2-related CMT. The drugs below are used off-label or based on general neuropathic pain and symptom guidelines. Doses must always be individualized by a doctor.

1. Gabapentin
Gabapentin is an anticonvulsant medicine widely used to treat neuropathic pain, such as burning or shooting pain in feet and legs. Typical adult doses for nerve pain range from about 900–3600 mg per day in divided doses, titrated slowly by the doctor. Gabapentin lowers pain by reducing abnormal firing of nerve cells and decreasing release of certain excitatory neurotransmitters. Common side effects include dizziness, sleepiness, and swelling of the ankles. It is not addictive but must not be stopped suddenly. FDA Access Data+1

2. Pregabalin
Pregabalin is related to gabapentin and is licensed for several types of neuropathic pain, fibromyalgia, and seizures. It binds to calcium channels in nerve cells and reduces the release of pain-signalling chemicals. Typical adult doses for neuropathic pain are 150–600 mg per day in two or three doses, adjusted for kidney function. The purpose is to reduce burning, electric-shock pain, and sleep disturbance. Side effects can include dizziness, sleepiness, weight gain, and swelling. It must be tapered gradually when stopped. FDA Access Data+1

3. Duloxetine
Duloxetine is a serotonin–noradrenaline reuptake inhibitor (SNRI) used to treat depression, anxiety, and neuropathic pain. It is licensed for diabetic peripheral neuropathy and chronic musculoskeletal pain, and is often used similarly in other neuropathic conditions. Usual doses are 30–60 mg once daily. Duloxetine works by boosting serotonin and noradrenaline in pain-control pathways in the brain and spinal cord. Side effects may include nausea, dry mouth, sweating, and insomnia, and there is a warning about suicidal thoughts in young people, so mood must be monitored carefully. FDA Access Data+2FDA Access Data+2

4. Amitriptyline
Amitriptyline is an older tricyclic antidepressant often used in low doses at night to treat neuropathic pain and help sleep. Typical pain-control doses are 10–75 mg at bedtime, adjusted by the doctor. It works by blocking reuptake of serotonin and noradrenaline and by other effects on nerve receptors that dampen pain signals. Common side effects include dry mouth, constipation, weight gain, and next-day drowsiness. It is usually avoided in people with certain heart rhythm problems or glaucoma.

5. Nortriptyline
Nortriptyline is another tricyclic antidepressant with a slightly “cleaner” side-effect profile than amitriptyline for some patients. It is used at night in low doses (often starting at 10–25 mg) to help neuropathic pain and sleep. The purpose and mechanism are similar to amitriptyline: boosting descending pain-modulating pathways and stabilizing nerve firing. Side effects include dry mouth, dizziness, and constipation. Heart rhythm should be monitored in at-risk patients.

6. Carbamazepine or oxcarbazepine
Carbamazepine and oxcarbazepine are anticonvulsants used for trigeminal neuralgia and other neuropathic pains. In CMT they may be considered when shooting, electric-shock pains are severe and not relieved by first-line drugs. Doses are carefully increased from low levels to avoid side effects. They work by blocking voltage-gated sodium channels in nerves, stabilizing nerve membranes. Side effects can include dizziness, double vision, low sodium levels, and rare serious skin reactions, so close medical monitoring is necessary.

7. Tramadol
Tramadol is a weak opioid with additional serotonin and noradrenaline reuptake inhibition. It may be used short-term for severe pain flares when other options are not enough. Typical doses are 50–100 mg every 4–6 hours as needed, with a maximum daily limit set by the doctor. It reduces pain by acting on opioid receptors and enhancing descending pain-control pathways. Side effects include nausea, dizziness, constipation, and risk of dependence and withdrawal. It should be used with great caution, especially in young people.

8. Acetaminophen (paracetamol)
Acetaminophen is a simple painkiller used for mild to moderate pain. It does not specifically treat neuropathic pain but can help general aches, joint pain, or post-surgical pain in CMT. Usual adult doses are up to 3–4 grams per day, divided, but lower in people with liver disease. It works mainly in the central nervous system to reduce pain and fever, with few effects on stomach or kidneys. Overdose can seriously damage the liver, so total daily dose must never be exceeded.

9. Non-steroidal anti-inflammatory drugs (NSAIDs) such as naproxen
Naproxen and similar NSAIDs help pain from inflammation in joints, tendons, or after surgery. They are less effective for pure nerve pain but may help mixed pain. Typical adult doses are 220–500 mg twice daily with food, as prescribed. They work by blocking cyclo-oxygenase (COX) enzymes and lowering prostaglandins, which mediate inflammation and pain. Side effects can include stomach irritation or ulcers, kidney problems, and increased blood pressure, especially with long-term use.

10. Topical lidocaine patches or gels
Lidocaine 5% patches or local gels can be applied over very painful areas such as the top of the foot. They numb the skin and nearby small nerve fibers by blocking sodium channels in nerve membranes. This reduces burning or allodynia (pain from light touch) without major whole-body side effects. Patches are usually worn for up to 12 hours per day on intact skin. Possible side effects are local redness or irritation; systemic toxicity is rare when used correctly.

11. High-strength capsaicin patches (clinic use)
Capsaicin 8% patches, applied in a clinic for a short time, can reduce localized neuropathic pain for several months. Capsaicin over-activates and then “switches off” certain pain fibers by acting on TRPV1 receptors, leading to longer-term desensitization. Application can cause strong burning feeling at first, so local anesthetic is often used. This treatment is usually reserved for focal painful areas and is done by trained staff.

12. Baclofen
Baclofen is a muscle relaxant used for spasticity and sometimes painful muscle cramps. In CMT it may be considered when cramps seriously disturb sleep or daily function. Typical doses begin at 5–10 mg two or three times a day and are increased slowly. Baclofen acts as a GABA-B receptor agonist in the spinal cord, reducing excessive muscle tone. Side effects include drowsiness, weakness, and nausea; sudden withdrawal can cause serious reactions, so it must be tapered.

13. Tizanidine
Tizanidine is another muscle relaxant that reduces spasticity by acting on alpha-2 adrenergic receptors. It may help tight muscles and cramps in some patients, especially at night. Small doses at bedtime are often used. The drug lowers nerve signals that drive muscle over-activity. Side effects include drowsiness, dry mouth, and low blood pressure. Liver function tests are sometimes monitored with long-term use.

14. Botulinum toxin type A injections
In selected patients with very tight calf muscles or toe flexors, botulinum toxin injections can reduce muscle over-activity and help brace fitting or walking. The toxin blocks acetylcholine release at the neuromuscular junction, temporarily weakening the injected muscle. Effects last about three months. This treatment is carefully targeted and must be performed by experienced specialists. Side effects are usually local weakness; systemic problems are rare at typical doses.

15. Sertraline or other SSRIs for depression/anxiety
Living with a chronic inherited disease can cause significant depression or anxiety. Selective serotonin reuptake inhibitors (SSRIs) such as sertraline are standard medicines for these conditions. Typical doses start low (for example 25–50 mg daily in adults) and are titrated by the doctor. They increase serotonin levels in brain circuits that control mood and anxiety. Common side effects include nausea, headache, and sexual dysfunction. Treating mood can greatly improve coping with pain and disability.

16. Melatonin for sleep regulation
Melatonin is a hormone that helps control the sleep–wake cycle and is often used in low doses at night to improve sleep onset. In CMT, it may help people who have difficulty falling asleep because of pain or anxiety, when combined with good sleep habits. Doses vary (for example 1–3 mg taken 1–2 hours before bedtime in adults), and long-term safety should be discussed with a doctor. It works by binding to melatonin receptors in the brain’s circadian clock.

17. Proton-pump inhibitors (PPIs) for NSAID-related stomach protection
If long-term NSAID treatment is needed for joint or post-surgical pain, doctors may prescribe a proton-pump inhibitor such as omeprazole to protect the stomach. PPIs reduce gastric acid production by blocking the proton pumps in stomach lining cells. This lowers the risk of ulcers and bleeding. They are usually taken once daily before food. Side effects can include headache, diarrhea, and, with very long use, possible nutrient absorption issues.

18. Stool softeners and laxatives when using opioids
When strong painkillers like tramadol or other opioids are used, constipation is a common side effect. Stool softeners (for example docusate) and gentle laxatives (like polyethylene glycol) may be prescribed to keep bowel movements regular. They work by drawing water into the bowel or softening stool, making it easier to pass. This supportive treatment does not affect CMT but prevents uncomfortable and potentially serious bowel problems.

19. Vitamin D and calcium medications when bone health is at risk
Reduced mobility and falls can increase the risk of low bone density and fractures. Doctors sometimes prescribe vitamin D and calcium in medicinal forms rather than just as supplements, especially if blood tests show deficiency. These substances are essential for bone mineralization. Doses depend on age, baseline levels, and diet. Adequate vitamin D and calcium lower the risk of osteoporosis and fractures, which are particularly troublesome in people with poor balance.

20. Short-term post-operative or acute pain medicines
After surgery for foot deformity or fractures from falls, stronger short-term pain relief may be needed (for example, short courses of opioids under strict hospital supervision). Doses and timing are tailored to the situation. The purpose is to control acute pain so that physiotherapy can proceed. These medicines act on brain opioid receptors and other pathways to block severe pain signals. Because of dependence and side effects, they are not suitable for long-term management of chronic CMT pain.

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Dietary molecular supplements

Evidence for supplements in DNM2-related CMT is limited. Most data come from studies in other neuropathies. Always discuss with your doctor before use.

1. Alpha-lipoic acid
Alpha-lipoic acid is an antioxidant used in some countries for diabetic neuropathy. Typical doses in studies are around 600 mg once daily in adults. It helps by neutralizing free radicals and improving blood flow to nerves. In theory, this may reduce oxidative stress in damaged peripheral nerves. Side effects can include nausea and skin rash. There is not yet strong evidence that it changes the course of CMT, but some people report mild improvement in burning pain or tingling.

2. Coenzyme Q10 (ubiquinone)
Coenzyme Q10 is involved in energy production in mitochondria. Doses of 100–300 mg per day are commonly used as a supplement. In nerve disease, the idea is to support energy supply to long nerve fibers and muscles, which may be stressed by chronic degeneration. It has a good safety profile; occasional side effects include stomach upset or headache. Evidence in CMT is limited, but it may support general muscle endurance as part of a healthy lifestyle program.

3. L-carnitine
L-carnitine transports fatty acids into mitochondria for energy production. Supplements (often 500–2000 mg per day in adults) are used in some muscle and nerve disorders. The functional aim is to improve energy use in muscle cells and reduce fatigue. Side effects can include stomach upset and a fishy body odor. There is no clear proof that L-carnitine alters DNM2-related CMT progression, but it may help some people feel less tired when combined with exercise and good nutrition.

4. Omega-3 fatty acids (EPA/DHA)
Omega-3 fats from fish oil or algae oil have anti-inflammatory and possible nerve-protective effects. Typical supplement doses may be 1–3 grams of combined EPA/DHA per day, depending on cardiovascular and lipid status. They may help reduce low-grade inflammation and support cell membrane health, including in nerves. Main side effects are fishy after-taste and, at high doses, a slightly increased bleeding tendency. Omega-3s also support heart health, which is beneficial for people with limited mobility.

5. Vitamin D3
Vitamin D deficiency is common worldwide and can worsen bone health and muscle function. Supplement doses depend on blood levels; common maintenance doses are 800–2000 IU daily in adults, but your doctor may prescribe higher doses for a short time if levels are low. Vitamin D works through nuclear receptors to regulate calcium absorption and many genes related to muscle and immune function. In CMT, good vitamin D status helps reduce fracture risk and may support muscle strength.

6. Vitamin B-complex (B1, B6, B12)
The B vitamins are important for nerve function and energy metabolism. Supplements often combine thiamine (B1), pyridoxine (B6), and cobalamin (B12) in moderate doses. They help nerve repair and myelin maintenance when there is deficiency. High doses of B6 for long periods can actually cause neuropathy, so balanced formulas and medical guidance are essential. In DNM2-related CMT, B-complex will not fix the genetic problem but can prevent added damage from vitamin deficiency.

7. Magnesium
Magnesium plays a role in muscle relaxation and nerve excitability. Supplements (for example 200–400 mg elemental magnesium per day in adults) may help with muscle cramps and restless legs in some people. It works by blocking certain calcium channels and balancing nerve–muscle signals. Side effects are typically loose stools, especially with magnesium oxide; other forms like magnesium citrate or glycinate may be better tolerated. Magnesium should be used cautiously in people with kidney disease.

8. Vitamin C
Vitamin C is an antioxidant and collagen co-factor. It has been studied specifically in CMT1A, but large trials did not show a major benefit on disease progression. However, normal vitamin C intake is important for immune health and connective tissue. Typical supplement doses are 200–500 mg per day; higher doses may cause diarrhea. It may support wound healing after foot surgery and general health, but is not a proven disease-modifying therapy in DNM2-related CMT. PMC

9. Curcumin (turmeric extract)
Curcumin is an anti-inflammatory compound from turmeric. Doses vary widely, often 500–1000 mg per day of standardized extract with piperine to improve absorption. It may reduce inflammatory signalling (for example, NF-κB pathways) and oxidative stress. Evidence in hereditary neuropathies is limited to experimental models, so benefits in people with DNM2-related CMT are uncertain. Side effects can include stomach upset and, rarely, gallbladder issues in predisposed individuals.

10. Resveratrol or N-acetylcysteine (NAC)
Resveratrol and NAC are antioxidants studied in many neurological models. NAC (for example 600–1200 mg per day) boosts glutathione, a key antioxidant, while resveratrol affects sirtuin pathways and mitochondrial function. In theory, they might protect nerves from secondary oxidative damage. Human evidence in CMT is very scarce, and doses should be discussed with a doctor to avoid interactions, especially with blood thinners. They should be seen as experimental supportive supplements rather than proven treatments.

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Immune, regenerative, and stem-cell-related drugs

Very important: There are no FDA-approved immune booster, regenerative, or stem-cell drugs that specifically treat DNM2-related CMT. The items below describe general or experimental approaches. Dosage for experimental therapies is only decided inside clinical trials.

1. Inactivated influenza vaccines
Yearly influenza vaccination is strongly recommended in most chronic neurological diseases. It does not treat CMT directly, but it protects against flu and its complications. Severe infections can temporarily worsen weakness and may lead to hospital stays, which further reduce mobility. Inactivated flu vaccines work by exposing the immune system to killed virus proteins so it can build antibodies. Doses and schedules follow national guidelines. Side effects include sore arm and mild fever.

2. Pneumococcal vaccines
Pneumococcal conjugate or polysaccharide vaccines protect against serious infections like pneumonia and bloodstream infection. For people with reduced mobility and possible chest weakness, avoiding these infections is very important. The vaccine presents parts of the bacterial capsule to the immune system, which then creates long-lasting antibodies. Schedules depend on age and prior vaccination history. This strategy “boosts immunity” against a dangerous infection, not against CMT itself.

3. COVID-19 mRNA or other approved COVID vaccines
COVID-19 can be severe in people with chronic illnesses. Approved COVID-19 vaccines, including mRNA vaccines, train the immune system to recognize the spike protein of the virus and prevent serious disease. Protecting general health helps people with CMT keep their strength and avoid long periods of bed rest. Dosing schedules and boosters follow public health advice. Side effects are usually short-term, such as fatigue or muscle aches.

4. Experimental gene therapy targeting DNM2
Research groups are exploring gene-based treatments that could lower the level of mutant DNM2 or correct the underlying mutation. Approaches include antisense oligonucleotides and gene-editing tools. So far, these are in laboratory or very early pre-clinical stages, and there is no approved gene therapy for DNM2-CMT. In trials, dosing, safety, and long-term effects are carefully studied. The mechanism aims to restore more normal dynamin-2 function and thereby protect peripheral nerves. PMC+1

5. Experimental neurotrophic factor therapies
Neurotrophic factors such as nerve growth factor (NGF) or neurotrophin-3 support nerve survival and regeneration in animal models. Researchers are evaluating ways to deliver these molecules or stimulate their production in inherited neuropathies. No product is yet licensed for DNM2-related CMT. In theory, they would work by activating receptors on nerve cells and Schwann cells to enhance survival, myelination, and axonal repair. Any future dosing will be decided only after clinical trials. PMC+1

6. Experimental mesenchymal stem-cell therapies
Stem-cell approaches aim to use mesenchymal stem cells or other cell types to release growth factors, modulate inflammation, and possibly promote nerve repair. At present, stem-cell treatments for CMT should be considered experimental; many advertised “stem-cell clinics” are not evidence-based and may be unsafe. In proper clinical trials, doses, routes (for example intravenous vs local), and outcomes are strictly monitored. The mechanism is thought to be paracrine (release of helpful molecules) rather than replacement of entire nerves. There is no standard clinical dosage outside research. PMC+1

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Surgical treatments

1. Tendon transfer surgery for foot drop
In severe foot drop, surgeons can move a working tendon (often from the tibialis posterior muscle) to the top of the foot to help lift it during walking. The aim is to replace the function of weak muscles with stronger ones. This can improve the ability to clear the foot, reduce tripping, and sometimes allow lighter braces. Surgery is usually considered after careful gait analysis, when braces alone no longer provide acceptable function. ScienceDirect

2. Osteotomy for cavovarus foot deformity
Many people with CMT develop high-arched, inward-turned (cavovarus) feet. Osteotomy involves cutting and reshaping bones in the foot to place it in a flatter, more balanced position. Sometimes multiple bones are adjusted in one operation. The purpose is to improve weight-bearing, relieve pain, and make it easier to wear braces or normal shoes. This surgery is typically done by an orthopedic surgeon experienced in neuromuscular foot disorders. ScienceDirect

3. Soft-tissue release and tendon lengthening
Tight calf muscles and Achilles tendons can prevent the heel from touching the ground, forcing walking on the toes. Surgeons can lengthen these tendons or release tight soft tissues. The mechanism is simple mechanical lengthening, which allows the ankle to move through a more normal range. This can improve balance and reduce stress on the forefoot, often combined with bone procedures and brace use. ScienceDirect

4. Joint fusion (arthrodesis) for severe instability or pain
When joints in the ankle or midfoot are very unstable or arthritic, fusing them into one solid bone can reduce pain and improve stability. Arthrodesis sacrifices joint movement to gain strength and alignment. In CMT, it is considered when deformity is advanced and other operations are not enough. The main goal is a plantigrade (flat) foot that can bear weight safely, even if some flexibility is lost. ScienceDirect

5. Spinal surgery for scoliosis (when present)
Some people with neuromuscular conditions develop scoliosis (curved spine) that may progress and cause pain or breathing limitations. If CMT-related spine curvature becomes severe, spinal fusion with rods and screws may be recommended. The purpose is to straighten and stabilize the spine, prevent further progression, and improve sitting balance and lung function. This is major surgery and requires careful discussion between the patient, family, neurologist, and spine surgeon. ScienceDirect

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Prevention and lifestyle protection

1. You cannot prevent the gene change, but you can prevent many complications. Early use of braces, therapy, and safe footwear helps avoid falls, fractures, and contractures.

2. Avoid known neurotoxic medicines where possible. Some chemotherapy drugs and high-dose metronidazole, among others, can damage nerves. Always remind doctors you have CMT so they can choose safer alternatives when possible.

3. Protect your feet from injury. Wear shoes even indoors if sensation is reduced, check your feet daily, and treat small cuts promptly. This prevents ulcers and infections that may be slow to heal.

4. Maintain a healthy body weight. Extra weight puts more strain on weak ankles, knees, and hips, making walking harder and increasing pain. Balanced diet and gentle exercise help keep weight in a healthy range.

5. Stay physically active within safe limits. Total rest weakens muscles and bones. Regular, moderate-intensity activity matched to your ability helps preserve strength and heart health.

6. Stop smoking if you smoke. Smoking reduces blood flow to nerves and skin and slows wound healing. Quitting improves overall health and may slow additional damage to already vulnerable nerves.

7. Limit or avoid alcohol. Heavy alcohol use can cause its own neuropathy and worsen balance and judgment, increasing fall risk. Keeping intake low or zero protects nerves and general health.

8. Keep other medical conditions under control. Good control of diabetes, thyroid disease, or vitamin deficiencies prevents extra nerve damage on top of CMT. Regular check-ups and blood tests are useful.

9. Use fall-prevention strategies at home and outdoors. Remove tripping hazards, use railings, wear AFOs or braces as advised, and avoid walking on uneven ground in poor lighting when alone.

10. Keep vaccinations up to date. Preventing serious infections such as influenza, pneumonia, and COVID-19 reduces hospital stays and long periods of bed rest that can weaken muscles and worsen disability.

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When to see doctors

You should see your doctor or neurologist regularly, even when things feel stable, to review braces, therapy, and medicines. You should also seek prompt medical advice if you notice:

• New or rapidly worsening weakness, especially in hands or legs.

• Sudden change in walking, frequent falls, or new severe balance problems.

• New severe pain, especially burning or electric-shock sensations that disturb sleep.

• Signs of foot infection: redness, swelling, warmth, discharge, or ulcers that do not heal.

• New back pain with leg weakness or bladder/bowel problems, which may signal another spinal problem.

• Shortness of breath, poor sleep, or morning headaches that might suggest breathing issues at night.

• Worsening mood, anxiety, or thoughts of harming yourself – mental health support is essential.

In emergencies (severe injury, very sudden weakness, breathing difficulty, chest pain, or severe infection), you should go to an emergency department immediately.

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Diet: what to eat and what to avoid

1. Choose whole grains; avoid refined sugars. Eat brown rice, whole-wheat bread, and oats. Limit white bread, sweets, and sugary drinks. This helps keep energy steady and supports healthy weight and blood sugar.

2. Eat lean proteins; avoid very fatty processed meats. Include fish, skinless poultry, beans, lentils, eggs, and low-fat dairy. Try to limit sausages, salami, and deep-fried meats, which add unhealthy fats and extra calories.

3. Focus on healthy fats; avoid trans fats. Use small amounts of olive or canola oil and eat nuts, seeds, and avocados. Avoid foods with “partially hydrogenated oils,” such as some packaged snacks and pastries. Healthy fats support heart and nerve cell membranes.

4. Fill half your plate with fruits and vegetables; avoid sugary desserts every day. Colorful fruits and vegetables provide vitamins, minerals, and antioxidants that support general and nerve health. Reserve cakes and pastries for special occasions rather than everyday snacks.

5. Drink enough water; avoid sugary sodas and energy drinks. Staying hydrated helps energy and prevents constipation, especially if medicines slow your bowel. Sugary drinks add large amounts of empty calories and can worsen weight gain.

6. Get enough calcium and vitamin D; limit very salty foods. Include milk, yogurt, cheese (in moderate amounts), or fortified non-dairy alternatives, plus vitamin D sources or supplements as advised. Avoid very salty snacks and instant noodles that can raise blood pressure and stress the heart.

7. Eat fiber-rich foods; avoid constant fast food. Whole grains, fruits, vegetables, and beans promote good digestion and help manage weight. Frequent fast-food meals are often high in fat, sugar, and salt, which can worsen long-term health.

8. Limit alcohol; ideally avoid it. Alcohol can worsen balance and damage nerves. If you drink at all, keep amounts very low and discuss safe limits with your doctor, especially if you take medicines that interact with alcohol.

9. Prefer home-cooked meals; avoid ultra-processed snacks. Cooking at home lets you control ingredients and portion sizes. Packaged chips, instant sweets, and processed foods are usually high in unhealthy fats and additives.

10. Avoid crash diets; aim for steady, balanced nutrition. Extreme dieting can weaken muscles and leave you tired. A balanced, sustainable eating plan supports the long-term energy you need for therapy and daily activity.

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Frequently asked questions

1. Is DNM2-related Charcot-Marie-Tooth disease curable?
No. At present there is no cure and no medicine that can stop or reverse the genetic damage to DNM2. Treatment focuses on managing symptoms, protecting mobility, and preventing complications with therapy, braces, and selected medicines. Research on gene and regenerative therapies is ongoing, and new options may appear in the future, but they are not yet available as standard care. PMC+1

2. How is DNM2-related CMT inherited?
This form of CMT is usually autosomal dominant. That means one changed copy of the DNM2 gene from either parent is enough to cause the condition. Each child of an affected person has a 50% chance of inheriting the mutation. Genetic counseling can explain this in detail and discuss testing options for family members. PubMed+1

3. At what age do symptoms usually start?
Symptoms often begin in childhood or teenage years, but the age can vary widely. Early signs include frequent tripping, ankle sprains, high arches, and difficulty running. Some people have milder disease that appears later in adult life. The rate of progression is usually slow over many years. Neuroscience Bulletin

4. Can exercise make CMT worse?
Safe, moderate exercise guided by a physiotherapist does not make the genetic disease worse. In fact, it helps maintain strength, endurance, and joint flexibility. However, over-strenuous exercise that causes strong pain or long-lasting weakness should be avoided. The key is a personalized program that respects your limits. Physiopedia+1

5. Will I end up in a wheelchair?
Some people with CMT eventually use wheelchairs for long distances, while others may only need braces or a cane. The outcome depends on the exact mutation, severity, and how well complications are prevented. Using mobility aids is not “giving up”; it is a way to stay active and safe while saving energy. Early rehabilitation and good foot care can delay or reduce the need for a wheelchair. ScienceDirect

6. Can DNM2-related CMT affect my breathing or heart?
Most people with DNM2-related CMT have mainly limb involvement. Severe breathing problems are uncommon but can occur in some CMT types. If you notice shortness of breath, poor sleep, or morning headaches, you should seek medical evaluation. The heart muscle itself is usually not directly affected by this form of CMT, but general heart health remains important. PMC+1

7. Is pregnancy safe if I have CMT?
Many people with CMT have safe pregnancies and deliver healthy babies. However, pregnancy can temporarily increase fatigue and weakness, and careful planning with neurologists and obstetricians is wise. There is a 50% chance of passing on the mutation in autosomal dominant cases, so genetic counseling before pregnancy can help you understand choices and risks. PubMed+1

8. Which medicines should I avoid?
Some medicines are known to be toxic to peripheral nerves, such as certain chemotherapy drugs and very high or prolonged doses of some antibiotics. Always carry a list stating that you have CMT and show it to any doctor before new medicines are prescribed. Your neurologist can provide a more detailed “use with caution” list. Never stop important medicines on your own; always discuss risks and benefits with a doctor. PMC+1

9. Does diet alone cure or control CMT?
No diet can cure a genetic neuropathy. However, a healthy diet supports body weight control, bone health, and overall energy, which all matter for living well with CMT. Some supplements may help symptoms such as fatigue or cramps, but evidence is limited, and they should be seen as supportive, not as primary treatment.

10. Can children with CMT play sports?
In many cases, yes, but the type and intensity of sport should be chosen carefully. Low-impact activities such as swimming or cycling are usually safer than contact sports or those with high fall risk. Braces and proper footwear are very important. A physiotherapist or sports doctor can help design a safe activity plan.

11. Is DNM2-related CMT the same as muscular dystrophy?
No. CMT is a neuropathy, meaning the primary problem is in the peripheral nerves, not in the muscle itself. Muscular dystrophies are diseases where the muscle fibers themselves are damaged. In practice, both conditions can cause weakness and muscle wasting, but their causes, test results, and management strategies differ. Neuroscience Bulletin

12. Are there clinical trials I can join?
Clinical trials for CMT are ongoing in many countries, but most are not specific to DNM2 yet. Trials may test new drugs, gene therapies, or rehabilitation methods. Your neurologist or national CMT organization can help you look for suitable trials. It is important to understand the potential risks and benefits before joining. PMC+1

13. Will my symptoms be the same as my parent’s symptoms?
Not always. Even with the same DNM2 mutation, symptom severity and age of onset can vary within a family. Other genes, lifestyle factors, and chance all play a role. This is why individual assessment and follow-up are important, even if you know your family history well. Neuroscience Bulletin

14. Can I have surgery or anesthesia safely if I have CMT?
Most people with CMT can have surgery safely, especially when the surgical and anesthesia teams know about the diagnosis in advance. Some muscle-relaxant drugs and positioning issues may need special care. You should always inform the anesthetist about your disease, braces, and breathing status. Pre-operative and post-operative physiotherapy are important to recover strength. ScienceDirect

15. Where can my family find support and reliable information?
Trusted sources include neuromuscular clinics, national CMT associations, and major academic centers that publish patient-friendly information. These groups provide education, support groups, and updates on research. Be careful with websites that promise miracle cures or expensive stem-cell treatments without solid scientific evidence. Discuss any new treatment idea with your neurologist before spending money or taking risks. Charcot-Marie-Tooth Association+2PMC+2

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 23, 2025.