Peroneal muscular atrophy is an older name for Charcot–Marie–Tooth disease (CMT). It is a group of inherited (genetic) nerve diseases that slowly damage the peripheral nerves in the legs, feet, hands, and sometimes arms. These nerves help your muscles move and carry feeling such as touch, pain, and temperature. When they are damaged, the muscles become weak and thin, especially in the lower legs, and the feet can become deformed.Wikipedia+1
CMT usually starts in childhood, teenage years, or early adult life. People may notice tripping, foot drop (difficulty lifting the front of the foot), high arched feet, hammertoes, and numbness or tingling in the feet. Over many years, weakness can move upwards to the legs and sometimes to the hands. The condition is lifelong and slowly progressive. There is no cure yet, but many treatments can help people stay active, walk more safely, control pain, and protect joints.Mayo Clinic+1
Because CMT is genetic, it is not caused by diet, infection, or bad lifestyle. But lifestyle and good management strongly affect how independent and comfortable a person can remain. Treatment focuses on rehabilitation, braces and shoes, surgery when needed, and good pain and complication control, rather than “fixing” the nerve damage itself.Mayo Clinic+2nhs.uk+2
Peroneal muscular atrophy is an old name for a group of inherited nerve diseases that doctors now usually call Charcot–Marie–Tooth disease (CMT). It mainly damages the peripheral nerves, which are the nerves outside the brain and spinal cord. These nerves control movement and feeling in the legs, feet, hands, and arms. When these nerves do not work well, the muscles they supply become weak and thin (atrophy), especially the peroneal muscles on the outer side of the lower leg. This leads to problems like foot drop, weak ankles, and high-arched feet. The condition usually starts in childhood or early adult life and slowly gets worse over many years. It is almost always caused by changes (mutations) in certain genes that are passed down in families. Wikipedia+2nhs.uk+2
Peroneal muscular atrophy is not a muscle disease itself. The main problem is in the nerve, not in the muscle. Because the nerve cannot send strong signals to the muscle, the muscle becomes weak and wastes away. Most people with this condition have it for life, but many can stay active with good care, therapy, and support. Wikipedia+1
Other names of peroneal muscular atrophy
Peroneal muscular atrophy has several other names in medical books. Knowing these names helps when you read different sources: Wikipedia+2nhs.uk+2
Charcot–Marie–Tooth disease (CMT) – This is the most common modern name.
Hereditary motor and sensory neuropathy (HMSN) – This name shows that the disease is inherited and affects both movement (motor) and feeling (sensory) nerves.
Hereditary motor and sensory neuropathy type I or II – Older labels for different forms of the disease.
Peroneal muscular atrophy (PMA) – The older name that focuses on wasting of the peroneal muscles in the lower leg.
Charcot–Marie–Tooth neuropathy – Another way to say CMT.
Dejerine–Sottas disease – A very severe early-onset form that some older texts group with peroneal muscular atrophy.
All these names point to almost the same family of inherited nerve disorders that mainly cause weakness and wasting in the feet and lower legs first. Wikipedia+1
Types of peroneal muscular atrophy
Doctors now classify peroneal muscular atrophy under the broad group of Charcot–Marie–Tooth types. The types are based mainly on which part of the nerve is damaged (myelin or axon) and how the disease is inherited. Wikipedia+1
CMT1 (demyelinating type)
In CMT1, the main damage is to the myelin sheath, the insulating layer that covers the nerve fiber. Signals travel more slowly along the nerve. This type is often due to duplication of the PMP22 gene on chromosome 17 and is the most common form worldwide. Wikipedia+1CMT2 (axonal type)
In CMT2, the main damage is to the axon, the central wire of the nerve. The signal size (amplitude) becomes small because fewer fibers are working, but speed may be closer to normal. This type is linked to genes such as MFN2, NEFL, and others. Wikipedia+1Intermediate CMT
Some people have nerve test results that are between typical demyelinating and axonal values. These cases are called intermediate CMT, and they can be caused by several different genes. Wikipedia+1CMT4 (autosomal recessive forms)
CMT4 includes several rare forms that usually appear in childhood and are often more severe. They happen when a person receives two faulty copies of certain genes (one from each parent). Wikipedia+1CMTX (X-linked forms)
In CMTX, the faulty gene is on the X chromosome, often the GJB1 gene, which encodes connexin 32. This gene affects gap junctions in Schwann cells. Males tend to be more severely affected than females. Wikipedia+1Severe early-onset form (Dejerine–Sottas or CMT3)
This type starts very early in life, may cause delayed walking and marked weakness, and often shows very slow nerve conduction speeds and thickened nerves. Older literature may still group this with peroneal muscular atrophy. Wikipedia+1Distal hereditary motor neuropathy forms focused on peroneal muscles
Some people mainly have motor problems in the lower legs with little sensory loss. These can be called distal hereditary motor neuropathies and share features with classic peroneal muscular atrophy because the weakness focuses on peroneal muscles and foot drop. NCBI+1
Even though the types are different, all of them can show the typical picture of thin lower legs, weak ankles, and foot deformities that gave rise to the name peroneal muscular atrophy. Wikipedia+1
Causes of peroneal muscular atrophy
Peroneal muscular atrophy is almost always genetic. The “causes” below describe the main gene and biological problems that lead to the disease. Most people inherit the faulty gene from a parent, but sometimes a new mutation appears for the first time in a family. Wikipedia+1
Duplication of the PMP22 gene (CMT1A)
The most common cause is a duplication of the PMP22 gene on chromosome 17. Too much PMP22 protein damages the myelin sheath around nerves and slows nerve signals, leading to progressive weakness and muscle wasting in the peroneal muscles. Wikipedia+1Mutations in the MPZ (P0) gene
Changes in the MPZ gene alter myelin protein zero, an important structural protein of myelin. Abnormal myelin becomes unstable and cannot support fast conduction, so distal muscles like those in the feet and ankles become weak. Wikipedia+1Mutations in the GJB1 (Cx32) gene
Faults in the GJB1 gene cause X-linked CMT. The gene codes for connexin 32, a gap-junction protein in Schwann cells. When it is defective, Schwann cells cannot keep nerves healthy, which leads to demyelination and weakness of peroneal muscles. Wikipedia+1Mutations in the MFN2 gene
MFN2 controls mitochondrial fusion and movement in axons. Mutations disrupt mitochondrial function and transport, damaging long peripheral axons. Because peroneal nerves are long, they are especially vulnerable, which explains early leg weakness. Wikipedia+1Mutations in NEFL (neurofilament light chain) and other axonal genes
Genes like NEFL, DNM2, and GDAP1 affect axonal structure and transport. Mutations cause axonal degeneration, leading to reduced nerve signal strength and muscle atrophy in distal limbs. Wikipedia+1Mutations in PRX and other myelin-related genes
Genes such as PRX help Schwann cells form stable myelin. When these genes are faulty, myelin becomes abnormal, and the nerve cannot conduct signals properly, causing typical CMT features. WikipediaAutosomal dominant inheritance
Many forms of peroneal muscular atrophy are autosomal dominant, meaning one faulty gene copy from one parent is enough to cause disease. Each child of an affected parent has about a 50% chance of inheriting the mutation. Wikipedia+1Autosomal recessive inheritance
Some types, especially CMT4 and severe early forms, are autosomal recessive. A person must inherit two faulty copies (one from each carrier parent). This pattern is more common in families where parents are related by blood. Wikipedia+1X-linked inheritance
In X-linked forms (like GJB1-related CMTX1), the mutated gene is on the X chromosome. Males, who have only one X chromosome, often show more severe peroneal muscle involvement than females. Wikipedia+1New (de novo) gene mutations
Sometimes the mutation appears for the first time in a child, with no previous family history. The change happens in the egg or sperm or very early in development. That child can then pass the mutation to future generations. Wikipedia+1Family history of CMT or peroneal muscular atrophy
Having relatives with CMT is itself a strong cause and risk factor because it reflects the presence of a shared genetic mutation in the family. Wikipedia+1Mutations affecting Schwann cell function
Schwann cells make and maintain myelin. When genes that control Schwann cell survival or communication are faulty, myelin breaks down, and distal muscles, including peroneal muscles, lose their nerve supply. Wikipedia+1Disrupted axonal transport
Many CMT genes disturb the movement of mitochondria and other cargo along the axon. Long nerves to the feet are especially sensitive to such problems, which leads to distal muscle weakness and wasting. Wikipedia+1Abnormal protein folding and degradation
Some gene mutations cause proteins to misfold or be broken down incorrectly inside nerve cells. This stresses the cell and contributes to slow nerve damage over many years. WikipediaMitochondrial dysfunction in peripheral nerves
MFN2 and related gene changes damage mitochondrial function, reducing energy supply to long peroneal nerves. Energy-starved nerves cannot keep their axons healthy, so muscles become weak. Wikipedia+1Abnormal gap junction signaling
In GJB1-related CMT, gap junctions between Schwann cells fail. This blocks normal movement of ions and small molecules and contributes to myelin breakdown and nerve dysfunction. WikipediaSecondary axonal degeneration from demyelination
When myelin is damaged, the underlying axon can later degenerate. This “secondary” axonal loss worsens weakness and wasting in the peroneal muscles over time. Wikipedia+1Genetic variants of uncertain significance that affect nerve pathways
Some people have rare gene changes that are not fully understood but are strongly suspected to disturb peripheral nerve biology and produce a CMT-like picture with peroneal atrophy. NCBI+1Complex or combined mutations in more than one CMT gene
Rarely, a person may carry changes in more than one CMT-related gene. These combined mutations can make symptoms more severe and may strongly involve peroneal muscles. Wikipedia+1Part of a broader inherited neuropathy syndrome
In some families, peroneal muscular atrophy is part of a wider syndrome that also involves hearing loss, vision problems, or other organ systems, because the mutated gene is used in many tissues. Wikipedia+1
Symptoms of peroneal muscular atrophy
The symptoms usually start in the feet and lower legs and slowly move upward and sometimes to the hands. Severity can vary from mild to quite disabling, even within the same family. Wikipedia+2Mayo Clinic+2
Weakness in feet and ankles
One of the earliest signs is trouble lifting the front of the foot or standing on the heels. The muscles that lift and turn the foot, supplied by the peroneal nerve, become weak. Mayo Clinic+1Foot drop
Because the ankle cannot lift well, the front of the foot “drops” when walking. People may drag the toes or trip often, especially on uneven ground or stairs. Mayo Clinic+1High-arched feet (pes cavus)
Many people develop very high arches, sometimes with clawed toes. This happens because some foot muscles weaken while others stay strong, pulling the foot into an abnormal shape. Mayo Clinic+2Muscular Dystrophy Association+2Hammertoes or claw toes
Toes may bend and curl, making shoes uncomfortable and causing pressure points. This again comes from muscle imbalance around the toes. Mayo Clinic+1Thin lower legs (“inverted champagne bottle” appearance)
Over time, the calf muscles shrink, while the thighs may look more normal. This gives the lower legs a thin, bony look. Mayo Clinic+1High-stepping or clumsy gait
To avoid dragging the toes, many people lift their knees higher than normal when walking. This is called a steppage gait and can look clumsy or awkward. Wikipedia+1Frequent tripping and falls
Weak ankles and poor lifting of the foot make tripping easy, especially on carpets, doorframes, or uneven surfaces. Ankle sprains are also common. Mayo Clinic+2Physiopedia+2Loss of feeling in feet and lower legs
Many people notice numbness, tingling, or reduced ability to feel pain or temperature in the feet and sometimes in the hands later. This sensory loss can make injuries harder to notice. Mayo Clinic+2News-Medical+2Reduced or absent ankle reflexes
When the doctor taps the Achilles tendon, the usual ankle jerk may be weak or missing because the nerve does not carry the signal properly. Wikipedia+1Weakness in hands and fingers (later)
As the disease progresses, weakness and wasting can move up to the hands. People may find it hard to button shirts, write, or hold small objects. Wikipedia+1Hand and foot cramps or muscle stiffness
Some people get cramps or stiffness in the small muscles of the feet or hands, especially after activity or at night. Wikipedia+1Balance problems
Because of weak ankles and poor sensation in the feet, balance becomes harder, especially in the dark or when standing on one leg. NINDS+1Foot pain or discomfort
High arches, hammertoes, and nerve pain can cause aching or burning in the feet. Poorly fitting shoes make this worse. Mayo Clinic+1Spinal or posture problems (in some people)
A few patients develop spine curves such as scoliosis because of long-term muscle imbalance and weakness. Wikipedia+1Fatigue with walking or standing
Walking with weak muscles takes more effort. People may feel tired quickly during walking or cannot stand for long periods without rest. Mayo Clinic+1
If someone has these symptoms, especially with a family history, they should see a neurologist or specialist for proper testing and advice. NINDS+1
Diagnostic tests for peroneal muscular atrophy
Diagnosis is based on clinical examination, nerve tests, and often genetic tests. The aim is to confirm that the problem is an inherited peripheral neuropathy and to rule out other causes. Wikipedia+2NINDS+2
Physical examination tests
General neurological examination
The doctor checks muscle strength, tone, reflexes, and sensation in the legs, feet, arms, and hands. Distal weakness, reduced reflexes (especially at the ankles), and sensory loss in a stocking-glove pattern suggest CMT-type peroneal atrophy. Wikipedia+1Gait observation
The doctor watches the person walk, looking for a high-stepping gait, foot drop, poor heel strike, or instability. This simple observation gives strong clues about peroneal muscle and nerve function. Wikipedia+1Inspection of foot shape
The feet are examined for high arches, hammertoes, claw toes, or flat feet. These deformities are very common in CMT and are part of the classic picture of peroneal muscular atrophy. ClinMed Journals+2Muscular Dystrophy Association+2Reflex testing
The doctor taps tendons at the ankle and knee. In peroneal muscular atrophy, ankle reflexes are often reduced or absent, while knee reflexes may be less affected in early disease. Wikipedia+1Family history and clinical pattern review
A detailed family history is taken, including relatives with similar walking problems, foot deformities, or diagnosed CMT. A “length-dependent” pattern of weakness starting in the feet with family history strongly supports the diagnosis. Wikipedia+1
Manual or bedside functional tests
Manual muscle testing of ankle and foot
The doctor asks the person to push and pull against resistance at the ankle (dorsiflexion, plantar flexion, inversion, eversion). Selective weakness of the muscles that lift and turn the foot outward is typical of peroneal nerve involvement. pinehurstneurology+1Heel-walking and toe-walking tests
Being unable to walk on the heels may show weakness of ankle dorsiflexors, while difficulty walking on toes can reveal calf weakness. These simple tasks help grade distal leg strength. Wikipedia+1Single-leg stance and balance tests
Standing on one leg or with eyes closed (similar to the Romberg test) helps show balance problems from sensory loss and muscular weakness in the feet and ankles. Muscular Dystrophy Association+1Assessment of hand function (grip and fine movements)
Squeezing the examiner’s fingers and performing tasks like buttoning or picking up coins show whether the disease has progressed to involve hand muscles as well. Wikipedia+1Screening for joint range and contractures
The doctor gently moves the ankle, toes, and other joints to check range of motion and look for stiff joints or contractures. Long-standing peroneal muscular atrophy can lead to fixed deformities that limit movement. ClinMed Journals+1
Lab and pathological tests
Basic blood tests to rule out other neuropathies
Tests like blood sugar, vitamin B12, thyroid function, and autoimmune markers do not diagnose peroneal muscular atrophy but help exclude other causes of peripheral neuropathy, such as diabetes or vitamin deficiency. NCBI+1Genetic testing panels for CMT genes
Once clinical and nerve conduction tests suggest CMT, a blood sample can be sent for genetic testing. Modern panels look at many genes, including PMP22, MPZ, GJB1, MFN2, and others. Finding a known mutation can confirm the exact type. Wikipedia+2Cleveland Clinic+2Targeted PMP22 duplication/deletion testing
Because PMP22 duplication is the most common cause, many labs first test specifically for this change. A positive result strongly supports CMT1A, a classic peroneal muscular atrophy form. Wikipedia+1Nerve biopsy (used less often)
In uncertain cases, a small piece of a sensory nerve (often from the leg) may be removed and studied under a microscope. Nerve biopsy can show demyelination, axonal loss, and “onion bulb” formations and can help distinguish CMT from inflammatory neuropathies. Today it is used less often because genetic tests are widely available. NCBI+2Muscular Dystrophy Association+2Pathological analysis for myelin and axon changes
When nerve biopsy is done, the pathologist looks at myelin thickness, axon density, and any scarring or onion-bulb formations. These patterns help classify the neuropathy as demyelinating, axonal, or mixed, which matches the CMT type. PMC+1
Electrodiagnostic tests
Nerve conduction studies (NCS)
NCS are key tests for peroneal muscular atrophy. Small electrical pulses are delivered to nerves, and sensors measure how fast and how strong the signals are. CMT types show characteristic slowing (in demyelinating forms) or reduced amplitude (in axonal forms). Guidelines recommend NCS in all suspected CMT cases. Mayo Clinic+2nhs.uk+2Electromyography (EMG)
EMG uses a thin needle electrode inserted into muscles to record electrical activity. It can show chronic denervation and reinnervation patterns matching a long-standing neuropathy and helps rule out primary muscle diseases. Mayo Clinic+2Muscular Dystrophy Association+2F-wave and other late response studies
Special nerve conduction techniques like F-waves test conduction in long segments of motor nerves. Abnormal results support a diffuse peripheral neuropathy affecting the entire length of the nerve. PMC+1
Imaging tests
X-rays of the feet and ankles
Plain X-rays do not show nerves, but they clearly show high arches, hammertoes, claw toes, and joint deformities, which help surgeons and orthopedists plan braces or surgery if needed. ClinMed Journals+1MRI or ultrasound of peripheral nerves (selected cases)
In complex or early cases, MRI or ultrasound of the peripheral nerves can sometimes show thickened nerves or other changes. These imaging tests may support the diagnosis or help rule out other structural causes of neuropathy. Cleveland Clinic+1
Non-pharmacological treatments (therapies and others)
Below are key non-drug treatments. In real life, a rehabilitation team (neurologist, physiatrist, physiotherapist, occupational therapist, orthotist) builds a personal program. Always follow your own specialist’s advice.
1. Physiotherapy (physical therapy)
Physiotherapy is one of the most important treatments for peroneal muscular atrophy. A physiotherapist teaches safe stretching, strengthening, balance, and walking exercises. The main purpose is to keep muscles as strong and flexible as possible, prevent joint stiffness and contractures, and reduce the risk of falls. The mechanism is simple: regular movement and controlled loading of muscle and joints help maintain muscle fibers, protect tendons, and keep nerves and brain pathways active, even when nerve signals are weaker.nhs.uk+1
2. Stretching programs
Daily stretching of calves, hamstrings, and foot muscles helps stop muscles from shortening and joints from becoming fixed in bent positions. The purpose is to prevent contractures and maintain full range of motion at the ankle, knee, and toes. The mechanism is gentle, repeated lengthening of muscles and tendons, which keeps collagen fibers more flexible and reduces stiffness around joints. This also improves walking pattern and reduces pain related to tightness.nhs.uk+1
3. Strength training with low to moderate resistance
Targeted strengthening focuses on muscles that still work but are weak, for example hip and core muscles that can help compensate for weak lower leg muscles. The purpose is to improve stability, standing, and walking endurance. The mechanism is progressive overload: muscles that are still innervated respond to repeated, safe resistance by increasing muscle fiber size and coordination. Training must be gentle and supervised so that already-weak muscles are not over-fatigued.NCBI+1
4. Balance and gait training
CMT can disturb balance because of weak muscles and reduced feeling in the feet. Balance training uses exercises such as standing on different surfaces, stepping over obstacles, and controlled turning. The purpose is to reduce falls and improve confidence in walking. The mechanism is neuroplasticity: the brain learns to better use remaining sensory inputs (vision, joint position sense) and to coordinate muscles more efficiently even when nerves are damaged.NCBI+1
5. Aerobic exercise (walking, cycling, swimming)
Low-impact aerobic activities improve heart and lung fitness, help weight control, and may improve fatigue. The purpose is to support overall health and keep daily activity levels up without stressing joints. The mechanism is increased blood flow to muscles and nerves, better oxygen delivery, and positive effects on mood and sleep. Swimming and cycling are often recommended because they reduce impact on weak joints and feet.NCBI+1
6. Orthotic devices (AFOs and braces)
Ankle–foot orthoses (AFOs) and other braces can lift the foot, support the ankle, and stabilize weak joints. The purpose is to correct foot drop, reduce tripping, prevent ankle sprains, and make walking more energy-efficient. The mechanism is mechanical: the brace holds the ankle in a safe position and stores and releases energy as you walk, replacing some lost muscle function and improving alignment.cmtausa.org+1
7. Custom shoes and insoles
People with CMT often have very high arches or hammertoes. Special shoes, insoles, or inserts spread pressure more evenly and make walking safer. The purpose is to protect the skin, prevent calluses and ulcers, and reduce pain from bony deformities. The mechanism is redistribution of weight away from fragile areas and improvement of foot positioning inside the shoe, which can also support balance.cmtausa.org+1
8. Occupational therapy
Occupational therapists help with hand weakness, fine motor problems, and daily tasks like dressing, writing, or using a phone or computer. The purpose is to keep independence in self-care, school, and work. The mechanism includes training special techniques, recommending adaptive tools (built-up pens, button hooks, computer adaptations), and changing the home or school environment to reduce strain and prevent falls.NCBI+1
9. Assistive devices (canes, walkers, wheelchairs)
Some people benefit from walking sticks, trekking poles, walkers, or, for longer distances, wheelchairs or scooters. The purpose is to maintain mobility and social participation while reducing fatigue and fall risk. The mechanism is simple support and extra contact points with the ground, which helps compensate for weak muscles and poor sensation in the feet. Devices can be temporary or long-term, depending on disease stage.NCBI+1
10. Pain management with non-drug methods
Heat packs, cold packs, gentle massage, relaxation breathing, and sometimes TENS (transcutaneous electrical nerve stimulation) can help reduce chronic pain or cramps. The purpose is to give additional pain control beyond medications. The mechanisms include blocking pain signals at the spinal cord level (TENS), relaxing muscle spasm with warmth, reducing inflammation with cold, and calming the nervous system through relaxation techniques.NCBI+1
11. Psychological support and counseling
Living with a progressive genetic condition can cause worry, sadness, or low self-esteem. Psychological support, cognitive behavioural therapy (CBT), or support groups help people learn coping skills and feel less alone. The purpose is to protect mental health, which in turn improves adherence to physical treatments and quality of life. The mechanism is emotional ventilation, learning new thinking patterns, and building social support networks.NCBI+1
12. Genetic counseling for the family
Because CMT is inherited, families often want to know the chance of passing it on. Genetic counseling explains the type of CMT, how it is inherited, and options for future pregnancies. The purpose is informed decision-making and emotional preparation. The mechanism is education: clear information reduces confusion and guilt and helps relatives decide whether to get tested.Wikipedia+1
Drug treatments for symptom control
There is no medicine that cures peroneal muscular atrophy or reverses nerve damage. Current drugs mainly treat neuropathic pain, muscle cramps, mood problems, and sleep issues. All doses below are typical adult ranges from FDA labels for other neuropathic conditions, not personal advice. Do not start, stop, or change any medicine without a doctor, especially as a teenager.NCBI+1
1. Pregabalin (Lyrica)
Pregabalin is an anticonvulsant used for neuropathic pain in conditions such as diabetic nerve pain and post-herpetic neuralgia. Typical adult neuropathic pain doses are 150–600 mg per day, divided two or three times, adjusted by the doctor.FDA Access Data+1 The purpose is to reduce burning, shooting, or electric-shock type nerve pain. It binds to calcium channels in nerve cells and reduces the release of pain-signalling chemicals. Common side effects include dizziness, sleepiness, weight gain, swelling in legs, and blurred vision.FDA Access Data+1
2. Duloxetine (Cymbalta)
Duloxetine is a serotonin–norepinephrine reuptake inhibitor (SNRI) antidepressant, approved for diabetic peripheral neuropathic pain and other chronic pain conditions. A usual adult dose for diabetic neuropathic pain is 60 mg once daily.FDA Access Data+1 The purpose is to reduce constant aching or burning pain and improve mood and sleep. The mechanism is increased serotonin and norepinephrine in pain-modulating pathways in the brain and spinal cord. Common side effects include nausea, dry mouth, constipation, sleepiness or insomnia, sweating, and reduced appetite.FDA Access Data+1
3. Gabapentin (Neurontin)
Gabapentin is another anticonvulsant widely used for neuropathic pain, such as post-herpetic neuralgia. FDA labels describe adult doses often in the 900–1800 mg per day range, split into three doses, with slow titration.FDA Access Data+1 The purpose is to ease burning, tingling, or stabbing pain. Gabapentin works on calcium channels and reduces abnormal firing in damaged nerves. Common side effects are dizziness, fatigue, sleepiness, and swelling of feet or ankles.FDA Access Data+1
4. Tricyclic antidepressants (for example, amitriptyline)
Older antidepressants like amitriptyline are often used in low doses at night for nerve pain. Doses are usually much lower than for depression (for example 10–75 mg at bedtime, adjusted by the doctor). The purpose is to reduce pain and improve sleep. The mechanism is blocking reuptake of serotonin and norepinephrine and changing pain signal processing in the spinal cord. Common side effects include dry mouth, constipation, drowsiness, weight gain, and in some people heart rhythm changes; they must be used with caution, especially in young people.NCBI+1
5. Topical lidocaine 5% patch (Lidoderm and generics)
Lidocaine patches are applied to the skin over painful areas to numb nerve endings locally. FDA labels describe a 5% lidocaine patch applied up to 12 hours on, 12 hours off, on intact skin.FDA Access Data+1 The purpose is to reduce localized burning or shooting pain without strong whole-body side effects. The mechanism is blocking sodium channels in nerve endings so they cannot fire easily. Side effects are usually mild skin irritation, redness, or rare allergic reactions; patches should not be placed on broken skin.FDA Access Data+1
6. Non-steroidal anti-inflammatory drugs (NSAIDs)
Medicines like ibuprofen or naproxen may help with muscle and joint pain caused by abnormal walking or foot deformities but are less effective for pure nerve pain. The purpose is to reduce inflammation around joints and soft tissues. The mechanism is blocking COX enzymes and lowering prostaglandins, which are inflammatory chemicals. Side effects include stomach upset, ulcers, kidney strain, and increased bleeding risk, especially with long-term use.NCBI+1
7. Tramadol (for selected severe pain cases)
Tramadol is an opioid-like pain medicine sometimes used for severe neuropathic pain when other drugs fail. FDA labels warn about risks of addiction, overdose, seizures, and serotonin syndrome, especially at higher doses or with other medicines.FDA Access Data+1 The purpose is short-term relief of strong pain. The mechanism combines weak opioid receptor activity with serotonin and norepinephrine reuptake inhibition. Because of serious risks, especially in teenagers, it should only be used under strict specialist supervision, if at all.FDA Access Data+1
8. Medicines for cramps, mood, and sleep
Some patients may receive muscle relaxants, low-dose benzodiazepines, or other sleep medicines, and antidepressants or anti-anxiety medications. The purpose is to relieve painful cramps, anxiety, or insomnia that worsen suffering. The mechanisms differ by drug class but often involve changing activity in brain neurotransmitters like GABA, serotonin, and norepinephrine. Side effects can include drowsiness, dependence, and balance problems, so they must be used very carefully in people with already-impaired walking.NCBI+1
Dietary molecular supplements
No dietary supplement has been proven to cure CMT or stop peroneal muscular atrophy. Some may support general nerve and muscle health, but evidence is often limited and mostly indirect. Always discuss supplements with a doctor or dietitian, because they can interact with medicines.NCBI+1
1. B-complex vitamins (especially B1, B6, B12)
B vitamins help nerves make energy and maintain their protective myelin coat. In people with deficiency, supplements can improve nerve function, but in CMT they mainly support overall nerve health. Typical doses depend on the product; excessive B6 can itself damage nerves. The function is co-enzyme roles in metabolism and neurotransmitter production. The mechanism is supporting normal myelin and axon metabolism, but they do not fix the underlying genetic defect.NCBI
2. Vitamin D
Vitamin D supports bone health and muscle function. Many people with chronic illness or low outdoor activity levels are deficient. Supplement doses vary with blood levels. The function is to help calcium absorption and bone strength, reducing fracture risk if falls occur. The mechanism is hormonal regulation of calcium–phosphate balance and muscle performance; it does not directly repair nerves but improves overall musculoskeletal health.NCBI
3. Omega-3 fatty acids (fish oil, algae oil)
Omega-3 fats have anti-inflammatory effects and may support nerve membrane health. Usual supplemental doses are in the range of hundreds of milligrams of EPA/DHA daily, but exact amounts should be individualized. Functionally, they may modestly lower inflammation, support cardiovascular health, and possibly help nerve conduction. Mechanistically, they are incorporated into cell membranes and change the production of inflammatory mediators. Evidence for CMT specifically is limited.NCBI+1
4. Alpha-lipoic acid
Alpha-lipoic acid is an antioxidant sometimes used in diabetic neuropathy studies. Doses used in research are often 300–600 mg per day in adults. Functionally, it may reduce oxidative stress in nerves and improve nerve blood flow. The mechanism is scavenging free radicals and helping mitochondria work more efficiently. For CMT, evidence is not strong, so it should be considered experimental and discussed with a doctor.PMC
5. Coenzyme Q10 (CoQ10)
CoQ10 is involved in mitochondrial energy production. Some neuromuscular disorders with mitochondrial problems may benefit from supplementation. Doses vary from 100–300 mg per day in adults in some studies. Functionally, it might improve energy, reduce fatigue, and support muscle function. The mechanism is improving electron transport chain function in mitochondria. There is no strong proof for CMT, but it may be considered as a supportive supplement under medical guidance.PMC
6. L-carnitine
L-carnitine helps move fatty acids into mitochondria for energy production. In some metabolic myopathies it is helpful. Supplement doses vary; high doses can cause stomach upset. The function in CMT is theoretical: supporting muscle energy production and reducing fatigue. The mechanism is boosting fatty-acid transport in muscle cells, but it does not change the genetic nerve defect.PMC
7. Magnesium
Magnesium is important for muscle relaxation and nerve signalling. If a person is deficient, cramps and twitching may worsen. Supplement doses are tailored to age and kidney function. Functionally, magnesium may reduce muscle cramps and improve sleep. The mechanism is blocking certain calcium channels and stabilizing nerve and muscle cell membranes. Too much can cause diarrhoea or, in kidney disease, serious toxicity.NCBI
8. Vitamin C and vitamin E (antioxidants)
Vitamin C and E are antioxidants that help protect cell membranes from free-radical damage. Normal dietary intake is usually enough; high-dose supplements are controversial. Their function is general cell protection rather than specific CMT treatment. Mechanistically, they neutralize free radicals and may reduce oxidative stress in nerves and muscles. Evidence for benefit in CMT is limited; mega-doses should be avoided unless supervised.PMC
9. Curcumin (turmeric extract)
Curcumin has anti-inflammatory and antioxidant actions in laboratory studies. Supplements vary widely in dose and absorption. Functionally, some people take it hoping to reduce chronic inflammation and pain. The mechanism involves blocking inflammatory signalling pathways such as NF-κB. Human evidence in hereditary neuropathies is weak, and it can interact with blood thinners.PMC
10. Resveratrol and other polyphenols
Polyphenols from grapes, berries, and plants may support cardiovascular and mitochondrial health. Supplements aim to boost antioxidant defences and energy metabolism. Mechanistically, they can activate cell pathways related to stress resistance (such as SIRT1 in lab models). For CMT, these remain experimental wellness products rather than proven treatments. It is generally safer to get polyphenols from a diet rich in fruits and vegetables.PMC
Regenerative and stem-cell-related approaches
At present, there are no FDA-approved stem cell or regenerative drugs for Charcot–Marie–Tooth disease or peroneal muscular atrophy. Research is ongoing in:
Gene therapy for specific CMT subtypes.
Stem cell-based nerve repair in animal models.
Small molecules or biologic drugs that may improve myelin or axon function.PMC+1
Experimental drugs in clinical trials are usually tested only in adults, with strict inclusion rules. Mechanisms being studied include correcting the underlying gene problem, improving mitochondrial function, or reducing toxic protein build-up in Schwann cells and axons.PMC+1
It is very important to avoid commercial “stem cell clinics” that promise cures without solid evidence. Many are unsafe, very expensive, and not regulated. If you read about a new regenerative or stem-cell therapy, discuss it with a neurologist and look for registered clinical trials through trustworthy databases rather than advertisements.PMC
Surgical options
Surgery does not cure CMT, but it can correct deformities or stabilize joints. Decisions are made by orthopaedic surgeons experienced in neuromuscular disorders.Orthobullets+1
1. Tendon transfer surgery
Tendon transfer moves tendons from stronger muscles to replace weak ones, for example using a stronger tendon to lift the front of the foot and correct foot drop. The purpose is to improve walking and reduce tripping. The mechanism is re-routing muscle force so that a functioning muscle can perform a lost movement.
2. Osteotomy (bone-cutting) for high arches
In people with very high arches and curved toes, surgeons may cut and realign bones in the foot to improve shape. The purpose is to spread weight evenly, reduce pain, and make brace fitting easier. The mechanism is permanent change of bone angles to correct deformity.
3. Achilles tendon lengthening
If calf muscles and Achilles tendon are too tight, the ankle cannot bend upwards (dorsiflex). Surgical lengthening can restore range. The purpose is to allow the foot to rest flat on the ground and improve gait. The mechanism is controlled surgical lengthening of the tendon followed by casting and rehabilitation.
4. Triple arthrodesis (fusion of foot joints)
In severe deformity with pain and instability, surgeons may fuse several joints in the foot to create a more stable but less flexible foot. The purpose is pain relief and improved stability for standing and walking. The mechanism is bone fusion, which removes painful motion at badly aligned joints.
5. Spine surgery for severe scoliosis (in some patients)
Some people with CMT develop spinal curvature. If the curve becomes large and causes pain, breathing problems, or posture issues, spinal fusion or other corrective surgery may be suggested. The purpose is to stabilize and straighten the spine. The mechanism is placement of rods, screws, and bone grafts to hold the spine in a corrected position while bones fuse.Orthobullets+1
Prevention and lifestyle protection
CMT is genetic, so we cannot prevent the disease itself, but we can reduce complications and slow loss of function with careful habits:NCBI+1
Avoid nerve-toxic drugs when possible (some chemotherapy and antibiotics can worsen neuropathy; a neurologist or pharmacist can advise).
Protect your feet with well-fitting shoes, daily skin checks, and quick treatment of blisters or cuts.
Maintain a healthy body weight to reduce stress on weak ankles and knees.
Do regular gentle exercise (stretching, strengthening, and aerobic) to keep muscles working.
Avoid smoking, which reduces blood flow to nerves and can worsen neuropathy.
Limit alcohol, as heavy drinking can damage nerves further.
Use braces and aids early instead of waiting until repeated falls cause injuries.
Keep bones strong with enough calcium, vitamin D, and weight-bearing activity, as advised by a doctor.
Have regular follow-up with neurology and rehabilitation teams to adjust braces, exercises, and medicines.
Consider genetic counseling for family planning in the future.Wikipedia+1
When to see doctors
You should see a doctor (ideally a neurologist or paediatric neurologist) if you or a family member has:
New or worsening foot drop, tripping, or frequent falls.
Noticeable foot deformities like very high arches or curled toes.
Numbness, tingling, or burning pain in the feet or hands that is not explained by injury.
Rapid worsening of weakness or a sudden change in walking pattern.
Severe pain, night cramps, or pain not relieved by simple measures.
Problems with breathing, swallowing, or bladder control, which are rare but serious.
Mood problems like depression or anxiety related to the chronic illness.
Regular reviews help adjust braces, therapy, and medicines before problems become severe. If you notice any sudden, strong change (for example, very bad pain, severe weakness, or trouble breathing), seek urgent medical care.Mayo Clinic+1
What to eat and what to avoid
Diet cannot change the genetic cause of peroneal muscular atrophy, but good nutrition supports muscles, nerves, and bones.
What to eat more of
Plenty of fruits and vegetables for vitamins, minerals, and antioxidants.
Whole grains (brown rice, whole-wheat bread, oats) for steady energy.
Lean protein such as fish, eggs, beans, lentils, and lean meat to support muscle repair.
Healthy fats from olive oil, nuts, seeds, and fatty fish for heart and nerve health.
Adequate calcium and vitamin D from dairy or fortified foods for strong bones.NCBI+1
What to limit or avoid
Large amounts of sugary drinks and sweets, which add weight and worsen fatigue.
Highly processed foods high in salt and unhealthy fats, which are bad for heart and blood vessels.
Trans fats (in some fried and packaged snacks), which damage vessels and increase inflammation.
Excessive alcohol, which can damage nerves and interact with pain medicines.
Very restrictive fad diets without medical supervision, which may cause vitamin or protein deficiency.NCBI+1
Frequently asked questions (FAQs)
1. Is peroneal muscular atrophy the same as Charcot–Marie–Tooth disease?
Yes. “Peroneal muscular atrophy” is an older name for Charcot–Marie–Tooth disease (CMT), a group of inherited peripheral neuropathies. The peroneal muscles in the lower leg are often among the first to waste, which is why the older name focused on them.Wikipedia+1
2. Is there a cure for peroneal muscular atrophy?
At present there is no cure and no medicine proven to stop the disease completely. Treatment focuses on keeping muscles flexible and strong, supporting joints with braces or surgery, and controlling pain and other symptoms. Research into gene therapy and other advanced treatments is ongoing.PMC+1
3. Will everyone with CMT end up in a wheelchair?
No. Many people with CMT remain able to walk, especially with good physiotherapy and orthotics. Some may need wheelchairs or scooters for long distances or later in life. The course varies a lot even within the same family.NCBI+1
4. Can exercise make the disease worse?
Gentle, well-planned exercise usually helps rather than harms. Overdoing high-impact or very heavy resistance work can cause injuries or fatigue. Working with a physiotherapist ensures that exercises are safe for your level of weakness and balance.nhs.uk+1
5. Are painkillers always needed?
No. Some people have very little pain and need only physical therapy and braces. Others have significant neuropathic pain and benefit from medicines like pregabalin, duloxetine, or gabapentin, chosen by a doctor after weighing side effects and other health conditions.FDA Access Data+2FDA Access Data+2
6. Can diet or vitamins cure CMT?
Diet and vitamins can support general health, but they cannot repair the genetic nerve problem. Treating vitamin deficiency (for example vitamin D or B12) is important, but supplements should be seen as supportive, not as a cure.NCBI+1
7. Is surgery always required?
No. Many people manage with braces and shoes only. Surgery is considered when deformities cause pain, repeated sprains, or difficulty fitting into braces or shoes, and when conservative methods are not enough.Orthobullets+1
8. Can children or teenagers be tested genetically?
In many families, genetic testing is done when symptoms appear, to confirm the type of CMT. Genetic counseling helps families decide when and how to test children. Testing decisions should always involve parents or guardians and specialist advice.Wikipedia+1
9. Is it safe to have anaesthesia or surgery if I have CMT?
Most people with CMT can safely have anaesthesia, but the anaesthetist must know about the condition. Certain drugs and positioning must be chosen carefully to protect weak nerves. Pre-operative assessment by a neurologist and anaesthetist is important.NCBI+1
10. Can pregnancy worsen peroneal muscular atrophy?
Some women report increased fatigue or temporary worsening of symptoms during pregnancy because of weight gain and hormonal changes, but many do well. Obstetricians and neurologists usually follow pregnant patients closely to adjust braces and activity as needed.NCBI+1
11. Are school sports allowed for teenagers with CMT?
Light to moderate activities like swimming or cycling are often encouraged. High-impact contact sports or those with high risk of ankle injuries may need to be adapted or avoided. A doctor or physiotherapist can write guidance for school staff.nhs.uk+1
12. Can CMT affect the hands?
Yes. Over time, weakness and wasting can spread to the hands and forearms, making fine tasks harder. Occupational therapy, hand splints, and adaptive devices can help maintain independence.Wikipedia+1
13. Does CMT shorten life expectancy?
For most people with common forms of CMT, life expectancy is close to normal. The main issues are disability, pain, and risk of falls, which can be reduced with good management. Some rare severe forms may have more serious complications, but these are less common.NCBI+1
14. Can peroneal muscular atrophy skip a generation?
Depending on the inheritance pattern (autosomal dominant, recessive, or X-linked), the condition can sometimes appear to “skip” generations or affect males and females differently. Genetic counseling explains the exact pattern in each family.Wikipedia+1
15. What is the most important thing I can do right now?
The most important steps are: get an accurate diagnosis, build a team with a neurologist and rehabilitation professionals, start regular gentle exercise and stretching, use braces or orthotics if advised, protect your feet, and look after your mental health. Small daily actions over many years make the biggest difference in maintaining independence and quality of life.NCBI+1
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 22, 2025.
