Charcot-Marie-Tooth disease and deafness (also called CMT1E when caused by some PMP22 gene variants) is a rare inherited nerve disease in which the protective covering of the peripheral nerves (myelin) is damaged. This damage affects nerves going to the feet, legs, hands and also the cochlear (hearing) nerve, so people develop muscle weakness, walking problems, and sensorineural hearing loss that can range from mild listening difficulty to true deafness. The condition is usually autosomal dominant, which means one changed copy of the gene from either parent can cause the disease.Springer Link+3Genetic Diseases Center+3malacards.org+3
Charcot-Marie-Tooth (CMT) disease is a group of inherited nerve disorders that slowly damage the long nerves in the arms and legs, causing weakness, loss of feeling, foot deformities, and walking problems. In demyelinating forms like CMT1, the myelin sheath (the “insulation” around nerves) is mainly affected, so nerve signals travel more slowly than normal. Wikipedia+1
“Charcot-Marie-Tooth disease and deafness” is a rare form of CMT where people have both peripheral nerve damage and sensorineural hearing loss. In this form, the same disease process that damages leg and arm nerves can also damage the hearing nerve (cochlear nerve), so the person has weakness and balance problems plus difficulty hearing. MalaCards+1
Charcot-Marie-Tooth disease demyelinating type 1E (CMT1E) is a subtype of CMT1 caused by point mutations in the PMP22 gene. PMP22 makes an important myelin protein. When this protein is abnormal, myelin becomes unstable and breaks down, which slows or blocks nerve signals. CMT1E often starts in childhood, can be more severe than common CMT1A, and may include hearing problems in some families. National Organization for Rare Disorders+2CMT Research Foundation+2
In the demyelinating type 1E form, the main problem is faulty PMP22 protein in myelin, so the myelin becomes unstable and breaks down. When myelin is damaged, nerve signals travel much more slowly, or they are lost completely, so muscles become weak and sensation fades. The same process can affect the cochlear nerve and pathways that carry sound from the inner ear to the brain, so hearing becomes poorer, especially for mid- and high-frequency sounds and for hearing speech in noise.MDPI+2PMC+2
Other names
Charcot-Marie-Tooth disease and deafness has several other names used in the medical literature. One common name is “Charcot-Marie-Tooth disease and deafness (CMT1E)”, which highlights that this is a subtype of CMT type 1 in which hearing loss is a key feature. This label is often used in genetic and neurology textbooks and databases.malacards.org+1
Another frequently used term is “Charcot-Marie-Tooth disease type 1E (CMT1E)”, which focuses on the main genetic and nerve problem and does not always mention deafness directly, even though hearing loss is common in this group. This term is widely used in rare-disease resources and genetic descriptions.Genetic Diseases Center+2Orpha+2
Some authors use “PMP22-related demyelinating neuropathy with deafness” to stress that the cause is a mutation in the PMP22 gene, which makes peripheral myelin protein 22. This wording connects the gene defect, the demyelinating neuropathy, and the hearing problem in one phrase.MDPI+2Nature+2
A related but distinct entity is “Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome”, in which patients have demyelinating neuropathy, congenital sensorineural deafness, and mild intellectual disability. It is usually grouped with the CMT1E spectrum because of similar demyelinating pathology and overlapping PMP22 involvement.Orpha+2NCBI+2
Types
Classic CMT1E with hearing loss – This pattern includes people with typical CMT1 features such as distal muscle weakness, foot deformities, and slowed nerve conduction, plus gradual sensorineural hearing loss starting in childhood or early adult life.Genetic Diseases Center+2Muscular Dystrophy Association+2
CMT1E with early-onset severe neuropathy – Some patients show symptoms in the first years of life, with delayed walking, very slow nerve conduction, and early foot deformities. Hearing loss may also appear early, which can affect speech development.Orpha+2ScienceDirect+2
CMT1E with “hidden” hearing loss – In this pattern, standard pure-tone hearing tests can look almost normal, but the person still struggles to understand speech in noisy places because of subtle damage to auditory nerve fibers. This is sometimes called hidden hearing loss.Nature+2ScienceDirect+2
CMT1E with moderate adult-onset hearing loss – Some adults with established CMT symptoms notice hearing problems only later in life. Audiograms often show mid- or high-frequency sensorineural loss, but neuropathy features remain the main complaint.cmtausa.org+2PMC+2
CMT-deafness-intellectual disability syndrome – In this rare form, children have demyelinating CMT, congenital deafness, and delayed intellectual and speech development. Nerve biopsy shows severe lack of large myelinated fibers, and this pattern is considered within the same demyelinating CMT spectrum as CMT1E.Orpha+2NCBI+2
CMT1E with predominant hand weakness and hearing loss – A smaller group of patients present mainly with weakness of hands and fine finger movements plus difficulty hearing speech, while leg involvement is milder. This reflects variable nerve involvement even within the same genotype.MedRxiv+2OUP Academic+2
CMT1E with respiratory or sleep-related issues – In some demyelinating CMT types, weakness of breathing muscles and sleep apnea are reported, and these can coexist with hearing loss in certain PMP22 variants, giving a more complex clinical picture.Muscular Dystrophy Association+2MDPI+2
Causes
PMP22 gene point mutations – The main cause of CMT1E is a disease-causing change in the PMP22 gene, such as a missense mutation, which alters the structure of the PMP22 protein in myelin. This faulty protein disrupts myelin stability and slows or blocks nerve conduction, including in the cochlear nerve.Genetic Diseases Center+2PMC+2
PMP22 small deletions or truncations – Some patients have small deletions or frameshift changes in PMP22 that truncate the protein. These changes can lead to very abnormal or unstable myelin, causing severe demyelinating neuropathy and a higher chance of early hearing problems.PMC+2Wiley Online Library+2
Abnormal PMP22 trafficking in Schwann cells – Mutant PMP22 can be misfolded and trapped inside Schwann cells instead of being correctly placed in the myelin sheath. This mis-trafficking leads to stress inside the cell and poor myelin formation around both limb and auditory nerves.American Chemical Society Publications+2MDPI+2
Autosomal dominant inheritance – Most cases are inherited in an autosomal dominant pattern, so a child has about a 50% chance of inheriting the disease-causing variant if one parent is affected. This inheritance explains why CMT1E and associated deafness often appear in many generations in the same family.Genetic Diseases Center+2MedlinePlus+2
De novo (new) PMP22 mutations – In some people, the PMP22 mutation appears for the first time in the affected person and is not present in either parent. These new (de novo) mutations still cause the same demyelinating neuropathy and hearing loss, but there may be no family history to give an early warning.Nature+2ScienceDirect+2
Demyelination of motor and sensory nerves – Once the myelin sheath is damaged, motor and sensory fibers conduct impulses much more slowly. This general demyelination underlies limb weakness, sensory loss and also affects auditory nerve fibers that carry sound information.Muscular Dystrophy Association+2Cleveland Clinic+2
Demyelination of the cochlear nerve – The cochlear nerve is part of the peripheral nervous system, so it can be affected by the same demyelinating process seen in limb nerves. Damage here leads to sensorineural hearing loss, especially for complex listening situations.Nature+2PMC+2
Axonal degeneration secondary to myelin damage – Over time, repeated demyelination can lead to loss of the underlying axons. Axonal degeneration worsens weakness and hearing loss, and it may explain why symptoms often progress slowly but steadily.PMC+2OUP Academic+2
Defective myelin compaction and integrity – Some PMP22 variants interfere with how layers of myelin pack together. Poorly compacted myelin is fragile and breaks down more easily, causing fluctuating or progressive conduction failure in affected nerves.American Chemical Society Publications+2PMC+2
Endoplasmic reticulum (ER) stress in Schwann cells – Misfolded PMP22 can accumulate inside the endoplasmic reticulum of Schwann cells, causing cellular stress and sometimes cell death. This stress contributes to defective myelin maintenance and further demyelination.PMC+2Wiley Online Library+2
Abnormal Schwann-cell–axon interaction – Myelin is not only insulation; it also supports the health of the axon. When PMP22 mutations disrupt Schwann cell function, the axon receives less support, so both the myelin and the axon become vulnerable, including in auditory pathways.MDPI+2OUP Academic+2
Altered nodal and paranodal structure – The nodes of Ranvier and their surrounding paranodal regions are key for fast saltatory conduction. In demyelinating CMT, these structures become disorganized, which further slows conduction and contributes to nerve fatigue and hearing difficulties.PMC+2American Chemical Society Publications+2
Genetic heterogeneity and modifier genes – Different PMP22 variants can lead to a wide range of severity, and other genes may modify how bad the disease becomes. Some combinations may especially predispose to more prominent hearing loss.PMC+2MDPI+2
Overlap with other PMP22-related neuropathies – PMP22 sequence variants can cause CMT1E, hereditary neuropathy with liability to pressure palsies, or Dejerine–Sottas syndrome. Overlapping features between these conditions can include demyelination and auditory involvement, which contribute to the “CMT and deafness” phenotype.PMC+2MDPI+2
Secondary musculoskeletal changes – Long-standing nerve damage leads to foot deformities, joint stiffness, and altered biomechanics, which do not cause deafness themselves but add to disability and make the overall CMT1E syndrome more severe and recognizable.Cleveland Clinic+2Muscular Dystrophy Association+2
Age-related progression – Even though the cause is genetic, symptoms usually worsen over years as demyelination and axonal loss accumulate. Age-related changes in hearing and nerves can combine with CMT1E, making deafness more likely in older adults.MedlinePlus+2PMC+2
Possible environmental stress on nerves – Factors such as repeated nerve compression, poorly controlled diabetes, or toxins that damage nerves do not cause CMT1E but may worsen existing demyelinating neuropathy. This can make weakness and hearing problems more severe in someone who already has a PMP22 mutation.PMC+2Cleveland Clinic+2
Delayed diagnosis and lack of early support – When the condition is not recognized early, patients may not receive hearing aids, physiotherapy, or assistive devices in time. This does not create the disease, but it allows complications, such as language delay and falls, to accumulate and worsen outcomes.bjorl.org+2cmtausa.org+2
Coexisting CMT subtype variants – Some families may carry more than one CMT-related genetic change (for example, a PMP22 variant plus another neuropathy gene variant). Together, they can cause a more complex phenotype with stronger neuropathy and earlier hearing loss.malacards.org+2PMC+2
Rare syndromic forms with intellectual disability – In syndromic forms that combine CMT, deafness, and intellectual disability, additional genetic or developmental factors affect brain development. These extra factors make hearing and communication problems more prominent than in “pure” CMT1E.Orpha+2NCBI+2
Symptoms
Distal muscle weakness in feet and legs – One of the earliest signs is weakness of the small muscles in the feet and lower legs, which makes it hard to run, climb stairs, or stand on tiptoes. Over time, this weakness can progress upward towards the knees.Muscular Dystrophy Association+2Cleveland Clinic+2
Foot deformities (high arches or hammertoes) – The imbalance between weak and relatively strong muscles in the feet can cause high-arched feet, hammertoes, or flat feet. These deformities can make walking painful and increase the risk of ankle sprains.Muscular Dystrophy Association+2Cleveland Clinic+2
Foot drop and tripping – Weakness of ankle dorsiflexion (lifting the foot) leads to foot drop, so the toes drag on the ground when walking. People may trip often, stumble on small obstacles, or need to lift their knees higher to avoid falling.Cleveland Clinic+2Muscular Dystrophy Association+2
Weakness in hands and fingers – As the neuropathy progresses, people can develop weakness in the hands, causing difficulty with buttons, zippers, writing, or fine tasks. Grip strength may decline, and objects can slip from the hands.MedlinePlus+2Cleveland Clinic+2
Loss of tendon reflexes – Reflexes such as the ankle jerk and knee jerk often become weak or absent because the reflex arc depends on intact myelinated peripheral nerves. Doctors can notice this on examination even before the patient notices strong weakness.Muscular Dystrophy Association+2Genetic Diseases Center+2
Reduced sensation in feet and lower legs – People may feel numbness, tingling, or a “stocking” pattern of reduced sensation to touch, vibration, or temperature in their feet and lower legs. This sensory loss can make it hard to detect injuries or temperature changes.Cleveland Clinic+2MedlinePlus+2
Neuropathic pain or burning sensations – Some patients report burning, aching, or electric-shock feelings in their feet or hands. This neuropathic pain occurs because damaged sensory fibers mis-fire and send pain signals even when there is no injury.Cleveland Clinic+2PMC+2
Balance problems and unsteady gait – Weak muscles and loss of joint position sense in the feet disrupt balance. People may walk with a wide-based, high-stepping gait and can feel especially unsteady in the dark or on uneven ground.Muscular Dystrophy Association+2Cleveland Clinic+2
Sensorineural hearing loss – The hallmark symptom for this subtype is sensorineural hearing loss, often affecting both ears. It can be mild to severe and may start with difficulty hearing high-frequency sounds, the television, or soft speech.malacards.org+2PMC+2
Difficulty hearing speech in noise (“hidden” hearing loss) – Even when basic hearing tests show only small changes, people with CMT1E can struggle to follow conversations in noisy rooms or group settings. This reflects subtle damage to auditory nerve fibers that is not fully captured by simple tone tests.Nature+2ScienceDirect+2
Tinnitus (ringing in the ears) – Some individuals experience ringing, buzzing, or hissing noises in one or both ears, especially in quiet environments. This tinnitus may be related to abnormal nerve activity in the damaged auditory pathways.PMC+2Audiology Associates+2
Delayed speech and language in children – When hearing loss begins very early, children may not hear speech clearly enough to learn words at the normal pace. This can lead to delayed speech milestones or unclear pronunciation if hearing support is not provided.Orpha+2NCBI+2
Fatigue and reduced stamina – Walking with weak muscles and poor balance requires extra effort, so many people with CMT feel tired more quickly during daily activities. Listening with hearing loss is also mentally tiring, adding to overall fatigue.Cleveland Clinic+2ScienceDirect+2
Emotional and social difficulties – Chronic neuropathy, visible foot deformities, and trouble hearing can lead to feelings of embarrassment, frustration, or isolation, especially in school or work settings. Anxiety and low mood are common but often under-recognized.PMC+2ResearchGate+2
Possible mild intellectual or learning problems in syndromic forms – In the special CMT-deafness-intellectual disability syndrome, children can have difficulties with learning or cognitive tasks, in addition to neuropathy and deafness. These problems are not typical of all CMT1E cases, but they are important to recognize in this rare variant.Orpha+2NCBI+2
Diagnostic tests
Comprehensive neurological physical examination (Physical exam) – The doctor checks muscle bulk, strength, reflexes, and sensation in the feet, legs, hands, and arms. Typical findings in CMT1E include distal weakness, atrophy of lower-leg muscles, high-arched feet, and absent ankle reflexes, which suggest a chronic demyelinating neuropathy.Muscular Dystrophy Association+2Cleveland Clinic+2
Gait and balance assessment (Physical exam) – Walking pattern, heel- and toe-walking, and turning are observed, and simple balance tasks are tested. A high-stepping gait, frequent tripping, or unsteadiness in the dark point towards peripheral neuropathy with impaired proprioception.Muscular Dystrophy Association+2MedlinePlus+2
Musculoskeletal inspection of feet and spine (Physical exam) – The clinician looks for high arches, hammertoes, flat feet, calluses, and scoliosis. These structural changes reflect long-standing muscle imbalance due to nerve damage and support the diagnosis of CMT rather than a short-term nerve injury.Cleveland Clinic+2Muscular Dystrophy Association+2
Otoscopy and general ear examination (Physical exam) – The ear canal and eardrum are examined to rule out wax blockage, infection, or middle-ear disease that could cause conductive hearing loss. A normal ear exam with hearing problems points toward inner-ear or nerve-related (sensorineural) loss, as seen in CMT-related deafness.PMC+2bjorl.org+2
Manual muscle testing by Medical Research Council (MRC) scale (Manual test) – The examiner grades strength in specific muscle groups from 0 (no movement) to 5 (normal). In CMT1E, distal muscles, such as ankle dorsiflexors and intrinsic hand muscles, are usually weaker than proximal muscles, giving a characteristic pattern.Muscular Dystrophy Association+2Cleveland Clinic+2
Bedside sensory testing with pin, cotton, and tuning fork (Manual test) – Light touch, pinprick, temperature, and vibration are tested in a systematic way. Reduced vibration or position sense in the feet, combined with neuropathic changes in strength, supports a length-dependent peripheral neuropathy.PMC+2Cleveland Clinic+2
Romberg and tandem stance tests (Manual test) – Standing with feet together, eyes open and closed, and walking heel-to-toe challenge balance and joint position sense. Worsening sway with eyes closed suggests sensory ataxia due to peripheral nerve damage rather than a purely brain or inner-ear problem.Muscular Dystrophy Association+2PMC+2
Bedside tuning-fork hearing tests (Rinne and Weber) (Manual test) – A vibrating tuning fork is used to compare air versus bone conduction and to check symmetry between ears. In CMT-related deafness, these tests usually show a sensorineural pattern, with air conduction better than bone conduction but reduced overall hearing sensitivity.PMC+2bjorl.org+2
Targeted PMP22 genetic sequencing (Lab/pathological test) – DNA testing focuses on the PMP22 gene to detect point mutations, small deletions, or insertions that cause CMT1E. Finding a disease-causing variant provides a precise molecular diagnosis and confirms the inherited nature of the neuropathy and deafness.Genetic Diseases Center+2PMC+2
Extended CMT multigene panel (Lab/pathological test) – When a simple PMP22 test is negative, broader panels test many CMT-related genes at once. This helps rule out other CMT subtypes that can also be linked to hearing loss and ensures that the correct type and prognosis are identified.malacards.org+2MDPI+2
Sural nerve biopsy (Lab/pathological test) – In selected cases, a small sensory nerve from the lower leg is removed and examined under the microscope. Findings such as severe loss of large myelinated fibers and onion-bulb formations support a chronic demyelinating neuropathy compatible with CMT1E or related syndromes.Orpha+2NCBI+2
Routine blood tests to exclude acquired neuropathies (Lab/pathological test) – Tests such as glucose, vitamin B12, thyroid function, and autoimmune screens are used to exclude other treatable causes of neuropathy. Normal results make an inherited neuropathy like CMT1E more likely in the right clinical setting.PMC+2Cleveland Clinic+2
Nerve conduction studies (NCS) (Electrodiagnostic test) – Small electrical pulses are applied to nerves, and the responses are recorded to measure conduction velocity and amplitude. In CMT1E, velocities are markedly slowed, reflecting demyelination, while amplitudes may be relatively preserved or reduced, helping distinguish this from axonal forms.Muscular Dystrophy Association+2PMC+2
Electromyography (EMG) (Electrodiagnostic test) – A fine needle electrode is inserted into muscles to record electrical activity at rest and during contraction. EMG in demyelinating CMT often shows chronic neurogenic changes without primary muscle disease, confirming that weakness is due to nerve damage.Muscular Dystrophy Association+2PMC+2
Brainstem auditory evoked responses (BAER/ABR) (Electrodiagnostic test) – Sounds are played through earphones while electrodes on the scalp record responses from the auditory pathways in the brainstem. In CMT-related deafness, waveforms may be delayed or reduced, showing slowed conduction along the auditory nerve.PMC+2Nature+2
Otoacoustic emissions (OAE) testing (Electrodiagnostic test) – This test measures tiny sounds generated by the outer hair cells of the cochlea. Normal OAEs with abnormal speech-in-noise performance support the idea of hidden hearing loss due to neural damage rather than a purely cochlear problem in some CMT patients.Nature+2ScienceDirect+2
MRI of brain and internal auditory canals (Imaging test) – Magnetic resonance imaging can rule out other structural causes of hearing loss, such as tumors or malformations of the auditory nerve or brainstem. A normal MRI alongside typical neuropathy and genetic findings points more strongly towards CMT1E.PMC+2bjorl.org+2
High-resolution CT of the temporal bones (Imaging test) – Computed tomography provides detailed images of the middle and inner ear structures. It is mainly used to rule out bone abnormalities or malformations, helping separate CMT-related sensorineural deafness from structural ear disease.PMC+2bjorl.org+2
MRI of spine and peripheral nerves (Imaging test) – In some centers, MRI is used to view peripheral nerves and roots, which may appear thickened or have abnormal signal in demyelinating neuropathies. These findings are not specific but support a generalized nerve disorder rather than a focal lesion.PMC+2Muscular Dystrophy Association+2
Peripheral nerve ultrasound (Imaging test) – High-resolution ultrasound can show enlargement of peripheral nerves and changes in their internal structure. In demyelinating CMT, nerves may appear diffusely thickened, and this non-invasive tool can complement nerve conduction studies in diagnosing hereditary neuropathies.PMC+2PMC+2
Non-pharmacological treatments
Physiotherapy (physical therapy)
Physiotherapy uses stretching, strengthening, balance, and aerobic exercises to keep muscles working as well as possible for as long as possible. It helps maintain joint movement, delay contractures (permanent stiffness), and reduce falls. In CMT, low-impact, regular exercise programs are adjusted to avoid over-fatigue of weak muscles but still keep the body active. nhs.uk+2Physiopedia+2Occupational therapy
Occupational therapists help people manage daily tasks like dressing, writing, cooking, and using a computer. They may suggest hand exercises and adaptive equipment such as special grips, button hooks, and modified cutlery. This preserves independence and reduces frustration when hand weakness or numbness makes fine tasks difficult. Muscular Dystrophy Association+1Ankle-foot orthoses (AFOs)
AFOs are light braces worn inside shoes to control foot drop, ankle wobbling, and high arches. They support the ankle, improve step clearance, and reduce tripping. Studies show that properly fitted AFOs improve walking efficiency and balance and can also reduce abnormal compensatory movements higher up the leg. Pod NMD+2www.slideshare.net+2Custom footwear and insoles
Special shoes with wide toe boxes, extra depth, and cushioned insoles help accommodate high arches and hammer toes and reduce pressure points. Custom orthotic insoles can spread weight evenly and prevent calluses and ulcers. This is important when sensation is reduced, because the person may not feel early skin damage. nhs.uk+1Hand splints and wrist supports
Light splints or wrist-hand orthoses can help stabilize weak wrists and fingers, improving grip strength and coordination for writing or holding objects. They also reduce joint strain and can prevent deformities over time. Splints are often used together with targeted hand exercises from occupational therapy. Muscular Dystrophy Association+1Balance and gait training
Special exercises on different surfaces, using balance boards or parallel bars, help train the brain and body to handle unsteady feet and reduced sensation. Therapists also teach safe walking strategies, including how to use visual cues, how to turn safely, and how to fall more safely if a fall happens. Physiopedia+1Hearing aids
For many people with CMT-related hearing loss, digital hearing aids are the first step. They amplify sound and can be programmed to help with high-frequency losses and speech in noise. They also support language development and school performance in children. Regular hearing tests are needed to adjust them over time as hearing changes. Charcot-Marie-Tooth Association+1Cochlear implants
When hearing loss is severe and hearing aids no longer help enough, cochlear implants may be considered. A small electronic device is surgically implanted into the inner ear and directly stimulates the auditory nerve. In appropriate candidates with CMT-related deafness, cochlear implants can significantly improve speech understanding, although results vary. BJORL+1Speech and language therapy
If hearing loss begins in childhood, children may need speech and language therapy to support normal speech development and listening skills. Therapists also teach communication strategies such as lip-reading, using pictures, and classroom accommodations. This protects learning and social interaction. Genetic Diseases Center+1Assistive listening devices and captioning
FM systems, Bluetooth microphones, and classroom sound-field systems send the teacher’s or speaker’s voice directly to hearing aids or headphones. Real-time captioning and subtitles on screens help with understanding speech in noisy places or online meetings. This reduces listening effort and fatigue. Charcot-Marie-Tooth Association+1Podiatry care
Regular visits to a podiatrist (foot specialist) allow early treatment of calluses, nail problems, ulcers, and pressure sores. Podiatrists also advise on footwear and orthotics. Foot care is vital in CMT because sensory loss means minor injuries can go unnoticed and later become infections or deformities. ScienceDirect+1Pain psychology and cognitive-behavioural therapy (CBT)
Chronic neuropathic pain and disability can cause anxiety, low mood, and sleep problems. CBT and other pain coping programs teach relaxation, pacing, and thinking skills to reduce the emotional “weight” of pain. They do not remove pain, but they help people live better with it. U.S. Food and Drug Administration+1Regular aerobic exercise
Gentle but regular exercise such as swimming, cycling, or walking helps cardiovascular fitness, weight control, and mood. Aerobic exercise also supports nerve and muscle health, as long as intensity is adjusted to avoid overuse of weak muscles. Programs should be designed by a therapist familiar with neuromuscular disease. Physiopedia+1Stretching to prevent contractures
Daily stretching of ankles, toes, knees, and fingers keeps joints flexible and reduces the risk of fixed deformities like equinus (toe-walking) or clawed toes. Families can learn simple, safe stretches to do at home in addition to physical therapy sessions. nhs.uk+1Ergonomic school and workplace adaptations
Adjustable chairs, footrests, adapted keyboards, voice-to-text software, and accessible workstations reduce strain on weak muscles and joints. These adaptations help people keep working or studying, even when walking or hand strength becomes more difficult. Muscular Dystrophy Association+1Energy-conservation and pacing strategies
Occupational therapists teach ways to spread activities throughout the day, plan rest breaks, and prioritize tasks. This prevents severe fatigue and allows people with CMT to manage school, work, and family life more comfortably. U.S. Food and Drug Administration+1Falls-prevention programs
Home safety checks, grab bars in bathrooms, night lights, and removal of loose rugs or wires help reduce falls. Training in safe transfers and use of mobility aids is also part of falls-prevention in CMT. ScienceDirect+1Use of walking aids
Canes, crutches, trekking poles, or rollators may be used when balance worsens. These aids improve safety and confidence, especially outdoors or on uneven ground. A physiotherapist can recommend the right device and height. ScienceDirect+1Patient support groups and education
Support organizations and online communities give emotional support, practical tips, and up-to-date information about research. Feeling understood by others with CMT and hearing loss reduces loneliness and helps mental health. Charcot-Marie-Tooth Disease+1Genetic counselling and family planning support
Because CMT1E and CMT-deafness are genetic, families benefit from genetic counselling. Counsellors explain inheritance, recurrence risk in future pregnancies, and available testing options. This helps families make informed decisions in a non-pressured way. National Organization for Rare Disorders+2MalaCards+2
Drug treatments
There is no drug currently approved specifically to cure CMT1E or CMT with deafness. Most medicines treat neuropathic pain, muscle symptoms, mood, or sleep. All must be prescribed and monitored by a doctor. PMC+1
Pregabalin
Pregabalin is an anticonvulsant used widely for neuropathic pain and fibromyalgia. It reduces abnormal firing of pain nerves by binding to calcium channels in nerve cells. It is usually taken two or three times daily, with the dose slowly increased by the doctor. Common side effects include dizziness, sleepiness, weight gain, and swelling. Texas Health and Human Services+3FDA Access Data+3PMC+3Gabapentin
Gabapentin is another anticonvulsant that calms over-active pain pathways. It is often used off-label for neuropathic pain in peripheral neuropathies. Doses are divided through the day and carefully adjusted to effect and kidney function. Side effects can include drowsiness, dizziness, and swelling of the legs. FDA Access Data+3U.S. Food and Drug Administration+3Physiopedia+3Duloxetine
Duloxetine is a serotonin-norepinephrine re-uptake inhibitor (SNRI) antidepressant. It is approved for painful diabetic neuropathy and other chronic pain conditions and can also treat anxiety and depression. It is taken once or twice daily. Side effects can include nausea, dry mouth, sweating, and sleep changes. FDA Access Data+3PMC+3Physiopedia+3Amitriptyline
Amitriptyline is a tricyclic antidepressant often used in low doses at night for neuropathic pain and sleep problems. It works by increasing certain brain chemicals that reduce pain signals. It can cause dry mouth, constipation, weight gain, and daytime drowsiness, so doses are carefully titrated. FDA Access Data+3IJBCP+3Physiopedia+3Nortriptyline
Nortriptyline is related to amitriptyline but sometimes has fewer sedating and anticholinergic side effects. It may be chosen when amitriptyline is not tolerated. Like other tricyclics, it must be started at a low dose and increased slowly under medical supervision, with monitoring for mood and heart rhythm effects. Physiopedia+1Carbamazepine / Oxcarbazepine
These anticonvulsants can help some people with severe shooting or electric shock–like neuropathic pain. They stabilize sodium channels in nerve membranes. Doctors monitor blood counts and sodium levels because these drugs can cause low sodium and rare allergic reactions. Physiopedia+1Topiramate
Topiramate is an anticonvulsant sometimes used for neuropathic pain. It modulates several ion channels and neurotransmitters. It may help with migraine as well. Side effects can include weight loss, tingling, cognitive slowing, and kidney stones, so careful monitoring is needed. U.S. Food and Drug Administration+1Opioid pain medicines (for short-term severe pain only)
In selected cases with very severe pain not controlled by other drugs, short-term opioid use (such as tramadol or stronger opioids) may be considered. They act on opioid receptors in the brain and spinal cord to reduce pain perception. Because of risks of dependence, overdose, and constipation, they are used cautiously and usually for brief periods. U.S. Food and Drug Administration+1Non-steroidal anti-inflammatory drugs (NSAIDs)
NSAIDs like ibuprofen or naproxen do not treat neuropathic pain directly, but they can help with joint and muscle pain caused by altered biomechanics, foot deformities, or surgery. They reduce inflammation by blocking prostaglandin production. Long-term use can irritate the stomach and affect the kidneys, so doctors aim for the lowest effective dose. Texas Health and Human Services+1Muscle relaxants (e.g., baclofen)
If painful muscle cramps or spasticity occur, baclofen or similar drugs may be tried. Baclofen acts on GABA receptors in the spinal cord to reduce muscle tone. It is started at low doses and gradually increased; side effects can include drowsiness, weakness, and dizziness. Texas Health and Human Services+1Sleep medicines (short term)
Poor sleep from pain, cramps, or anxiety may sometimes be managed using short courses of sedative medicines. Doctors choose these carefully because many sedatives can worsen balance and increase fall risk, especially if the person already has weakness and sensory loss. U.S. Food and Drug Administration+1Antidepressants for mood disorders
Living with chronic disability and hearing loss raises the risk of depression and anxiety. SSRIs or SNRIs may be prescribed at standard doses to improve mood and coping. Treating depression often improves pain experience and quality of life. Physiopedia+1Anti-vertigo medicines
If balance problems are made worse by inner ear issues, short-term anti-vertigo drugs may be used. These do not treat CMT nerve damage itself but can ease dizziness during acute episodes. Doctors usually prefer vestibular rehabilitation exercises over long-term drug use. BJORL+1Antibiotics for foot and skin infections
Because numb feet are prone to unnoticed injuries and infection, timely antibiotics may be needed when ulcers or cellulitis develop. The choice of antibiotic depends on the infection site and severity. Early treatment prevents spread to deeper tissues and bones. ScienceDirect+1Vitamin D and calcium when deficient
When blood tests show low vitamin D or bone density loss from reduced mobility, supplements and sometimes prescription-strength vitamin D are used. This reduces fracture risk and supports muscle function. Doses are individualized and monitored by blood tests. ScienceDirect+1Treatment of co-existing autoimmune neuropathies
If tests show additional autoimmune neuropathy features (for example, inflammatory demyelinating neuropathy on top of genetic CMT), physicians may consider steroids, IVIG, or other immunotherapies. This is rare, and decisions are made in specialist centres. ScienceDirect+1Anti-reflux or constipation medicines
Autonomic or lifestyle-related gut problems may need treatment, especially if pain medicines cause constipation or nausea. Managing these side effects helps people continue necessary pain control safely. U.S. Food and Drug Administration+1Local anaesthetic patches or creams
Topical lidocaine or similar agents may provide relief for small areas of severe burning pain or allodynia. They numb the superficial nerve endings where applied, with minimal whole-body side effects when used as directed. Physiopedia+1Botulinum toxin for focal deformities (selected cases)
In some neuromuscular disorders, small injections of botulinum toxin into overactive muscles can temporarily reduce contractures or pain. Its role in CMT is limited and experimental, but may be used in special situations under expert supervision. ScienceDirect+1Experimental disease-modifying drugs
Agents such as PXT3003 (a combination therapy studied mainly in CMT1A) and gene-targeted therapies are being tested in trials. These aim to correct the underlying biology, not just the symptoms. They should only be used within research studies approved by ethics committees. PMC+1
Dietary molecular supplements
Evidence for supplements in CMT is limited. They must never replace prescribed treatment. Most data come from general nerve health research, not CMT-specific trials. PMC+1
Vitamin B12 – Important for myelin and nerve repair. Deficiency worsens neuropathy, so replacement is essential if levels are low. It is given as oral tablets or injections as directed by a doctor. Texas Health and Human Services+1
Folate (Vitamin B9) – Works with B12 in DNA and myelin formation. Lack of folate can cause additional nerve and blood problems, so supplementation is used when deficiency is proven. Texas Health and Human Services+1
Vitamin B1 (Thiamine) – Severe deficiency causes neuropathy. In people with poor diet or alcohol misuse, doctors may give thiamine to protect nerves. Its benefit in genetic CMT without deficiency is uncertain. Texas Health and Human Services+1
Alpha-lipoic acid – An antioxidant used in some countries for diabetic neuropathy. It may reduce oxidative stress in nerves, but evidence in CMT is very limited. It should be used only under medical advice because it can interact with other drugs. Texas Health and Human Services+1
Omega-3 fatty acids – Found in fish oil, they have anti-inflammatory and neuro-protective effects in some studies. They may support heart and brain health and could modestly support nerve health as part of a healthy diet. Texas Health and Human Services+1
Coenzyme Q10 – Important for mitochondrial energy production. Some neuromuscular conditions with mitochondrial dysfunction use CoQ10 as an adjunct, though strong evidence in CMT is lacking. Texas Health and Human Services
Vitamin D – Important for bone and muscle health. People with limited mobility often have low vitamin D and may need supplements, as discussed under drug treatments. ScienceDirect+1
Magnesium – Sometimes used for muscle cramps. If magnesium levels are low, supplements can help, but high doses can cause diarrhoea and kidney problems, so medical supervision is needed. Texas Health and Human Services+1
L-carnitine – Supports mitochondrial function and fatty-acid metabolism. Evidence in genetic neuropathies is limited, but it is sometimes used as an experimental supportive supplement under specialist guidance. Texas Health and Human Services+1
Multivitamin with trace elements – A balanced multivitamin can help cover small diet gaps, especially when appetite or dietary variety is poor. It should not be considered a cure but part of general health support. Texas Health and Human Services+1
Immunity-boosting, regenerative and stem-cell-related drugs
At present there are no approved stem-cell or gene-therapy drugs for CMT1E or CMT with deafness. Approaches below are supportive or experimental. PMC+2ScienceDirect+2
Routine vaccinations
Keeping up to date with vaccines (influenza, pneumococcal, COVID-19, etc.) helps prevent infections that could trigger bed rest, deconditioning, or complications in people who already have limited mobility. Vaccines work by safely training the immune system to recognize germs. ScienceDirect+1Good nutrition as immune support
A diet rich in fruits, vegetables, protein, and healthy fats supports immune function and tissue repair. While this is not a “drug,” it acts like a daily therapy that helps the body handle infections and minor injuries better. U.S. Food and Drug Administration+1Vitamin D (immune modulation)
Vitamin D plays a role in both bone health and immune regulation. Adequate levels may help reduce the risk of respiratory infections and improve muscle strength, so doctors correct deficiency in CMT patients when present. ScienceDirect+1Experimental neuro-trophic or gene-targeted therapies
Research is exploring ways to deliver growth factors, silence over-expressed PMP22, or replace defective genes. These are given only in clinical trials and aim to protect or restore nerve myelin and axons, not just reduce symptoms. PMC+1Experimental stem-cell approaches
Some early-stage studies test stem cells as a way to support nerve repair or modify the immune environment. These are still experimental, with unknown long-term safety and benefit, and should only be accessed within regulated trials, not at unproven private clinics. PMC+1Rehabilitation-driven “functional regeneration”
Intensive, well-designed rehab cannot regrow nerves, but it trains the nervous system to use remaining pathways better. This form of “functional regeneration” relies on neuroplasticity – the brain’s ability to adapt – rather than new nerve growth. Physiopedia+1
Surgical options
Foot deformity correction (osteotomies and tendon transfers)
Surgeons may reshape bones and move tendons to correct high arches, claw toes, or severe foot inversion. The goal is to give a more stable, plantigrade (flat) foot to improve walking and reduce pain and ulcers. ScienceDirect+1Joint fusion (arthrodesis)
In severe deformity or instability, joints in the foot or ankle may be fused in a functional position. This sacrifices some movement but increases stability and reduces pain. ScienceDirect+1Carpal tunnel or nerve decompression surgery
If nerve entrapments (like carpal tunnel syndrome) develop on top of CMT, decompression surgery may relieve numbness and pain. This does not cure CMT but can improve symptoms caused by compression. ScienceDirect+1Spinal surgery for scoliosis
Some people with neuromuscular disorders develop scoliosis (curved spine). In severe cases, spinal fusion may be required to improve posture, sitting balance, and lung function. ScienceDirect+1Cochlear implant surgery
For CMT-related severe sensorineural deafness, cochlear implants may be offered. The surgery places an electrode in the cochlea and a receiver under the skin behind the ear. This allows electrical stimulation of the auditory nerve and can significantly improve hearing in suitable patients. BJORL+2Nature+2
Prevention and complication-reduction tips
Because CMT1E is genetic, we cannot prevent the disease itself. We can, however, prevent or delay complications: PMC+1
Maintain regular physiotherapy and home exercises. nhs.uk+1
Wear prescribed AFOs and orthotic shoes consistently. Pod NMD+1
Check feet daily for blisters, cuts, or pressure marks. www.slideshare.net+1
Avoid walking barefoot on rough, hot, or very cold surfaces. www.slideshare.net+1
Keep a healthy body weight to reduce stress on weak muscles and joints. Physiopedia+1
Use handrails, grab bars, and good lighting at home to prevent falls. ScienceDirect+1
Protect hearing by avoiding very loud noise and using ear protection at concerts or workplaces. Nature+1
Attend regular neurology, audiology, and podiatry reviews. Muscular Dystrophy Association+1
Keep vaccinations up to date to reduce infection-related setbacks. ScienceDirect+1
Seek psychological support early if mood, anxiety, or coping become difficult. U.S. Food and Drug Administration+1
When to see a doctor
You should see a doctor (preferably a neurologist and ENT/audiology specialist) if you or your child has slowly worsening foot deformities, frequent tripping, weakness in the feet or hands, or difficulty hearing speech, especially in noisy places. Early assessment allows earlier rehab, bracing, and hearing support. Charcot-Marie-Tooth Association+2Nature+2
Urgent review is needed if there is sudden marked worsening of weakness, rapid loss of walking ability, severe pain, new bowel or bladder problems, sudden major hearing loss, or signs of infection in the feet, such as redness, warmth, and fever. These could signal complications or additional treatable conditions on top of CMT. ScienceDirect+2PMC+2
What to eat and what to avoid
Eat: A balanced diet with plenty of colourful vegetables and fruits for antioxidants and vitamins that support general nerve and immune health. U.S. Food and Drug Administration+1
Eat: Adequate protein from fish, eggs, beans, and lean meat to support muscle maintenance and tissue repair, especially when doing regular physiotherapy. U.S. Food and Drug Administration+1
Eat: Healthy fats from olive oil, nuts, seeds, and oily fish (omega-3) for heart and brain health. Texas Health and Human Services+1
Eat: Foods rich in B-vitamins when possible, such as whole grains, leafy greens, and legumes, which support nerve function. Texas Health and Human Services+1
Eat: Enough calcium and vitamin D (dairy or fortified alternatives plus safe sun exposure) to maintain strong bones. ScienceDirect+1
Avoid: Excessive alcohol, which is toxic to nerves and can worsen neuropathy and balance. Texas Health and Human Services+1
Avoid: Very high doses of unproven supplements without medical guidance, as they may interact with medicines or cause toxicity. Texas Health and Human Services+1
Avoid: Very high-sugar, ultra-processed diets that promote weight gain and metabolic problems, which increase strain on weak legs. Texas Health and Human Services+1
Avoid: Crash diets that lead to rapid weight loss and muscle wasting. Slow, supervised weight management is safer if needed. Physiopedia+1
General rule: Aim for a “Mediterranean-style” eating pattern (lots of plants, fish, olive oil, nuts, moderate dairy, little processed meat) adapted to local foods and culture. Texas Health and Human Services+1
Frequently asked questions
Is CMT1E with deafness curable?
No. At present there is no cure. Treatment focuses on rehabilitation, bracing, pain control, and hearing support. Research into gene- and stem-cell-based therapies is ongoing but still experimental. PMC+2PMC+2Will everyone with CMT1E develop hearing loss?
No. CMT1E and other CMT-deafness syndromes show variable expression. Some families have significant hearing loss; others have mainly limb weakness. The exact mutation and other genetic or environmental factors influence who is affected. MalaCards+2National Organization for Rare Disorders+2Can children with CMT and deafness go to regular school?
Many can, with the right supports: physiotherapy, braces, hearing aids or cochlear implants, classroom listening devices, seating changes, and extra time in exams. Early involvement of school services and therapists is very important. Charcot-Marie-Tooth Association+2BJORL+2Does exercise make CMT worse?
Appropriate, moderate exercise usually helps rather than harms. Over-exertion of very weak muscles can cause temporary worsening, so programs must be designed by therapists who understand neuromuscular disease. Physiopedia+2ScienceDirect+2Will I end up in a wheelchair?
Disease severity varies. Some people walk independently for life with braces and therapy; others need wheelchairs for longer distances. Early and ongoing rehab, surgery when needed, and careful management of complications can delay or reduce wheelchair dependence. Charcot-Marie-Tooth Association+2PMC+2Can hearing get worse suddenly?
Hearing loss from CMT is usually slowly progressive, but sudden changes can occur from infections, loud noise, or other ear problems. Any sudden hearing change needs urgent ENT and audiology review. Nature+2BJORL+2Is pregnancy safe in CMT with deafness?
Many women with CMT have successful pregnancies. Extra planning is needed for mobility, pain management, and communication during labour. Genetic counselling can help parents understand inheritance risks. Charcot-Marie-Tooth Association+2National Organization for Rare Disorders+2Can CMT1E be found on genetic testing?
Yes. Many cases are confirmed by sequencing the PMP22 gene and other neuropathy genes. However, not every mutation is known yet, so some families still have “genetic variants of uncertain significance.” National Organization for Rare Disorders+2PMC+2Will medicines like pregabalin or duloxetine stop the disease from progressing?
No. These drugs reduce neuropathic pain but do not change the underlying genetic problem or stop progression. They are used to improve comfort and function. PMC+2FDA Access Data+2Are hearing aids enough, or will I need a cochlear implant?
Many people do well with hearing aids. Cochlear implants are considered when hearing aids no longer provide enough benefit. The decision depends on hearing tests, speech understanding, and personal goals. Charcot-Marie-Tooth Association+2BJORL+2Should family members without symptoms be tested?
This is a personal decision. Genetic counselling can help relatives weigh the emotional, practical, and insurance implications of knowing their carrier status before they decide. National Organization for Rare Disorders+2MalaCards+2Can diet alone heal my nerves?
No diet can reverse genetic nerve damage, but healthy eating supports overall health, muscle function, and immune defence. It should be combined with physiotherapy and medical care, not used alone. Texas Health and Human Services+2U.S. Food and Drug Administration+2Is it safe to try alternative therapies?
Some people explore acupuncture, massage, or other complementary approaches for pain and relaxation. These should be discussed with the medical team to avoid harm (for example, burns or skin damage in numb areas) and should not replace evidence-based care. U.S. Food and Drug Administration+2ScienceDirect+2How often should I see my specialists?
Most people with stable disease see a neuromuscular specialist at least once a year, and more often during childhood, rapid change, or after surgery. Regular audiology and podiatry visits are also important. Muscular Dystrophy Association+2Charcot-Marie-Tooth Association+2Where can I find reliable information and support?
National and international CMT organizations, rare-disease information sites, and neuromuscular clinics provide trustworthy information and connect families to research and support groups. Examples include CMTA, MDA, and rare-disease networks. Charcot-Marie-Tooth Association+2Muscular Dystrophy Association+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 29, 2025.
