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Health condition · Clinically reviewed

Charcot-Marie-Tooth disease, the most common inherited neuropathy - and how it is managed today.

CMT is slowly progressive and lifelong, but a good multidisciplinary plan - physio, orthotics, targeted foot surgery and drug-avoidance advice - keeps people walking, working and independent for far longer.

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Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a registered UK clinician before publication.

  • 02

    Sourced from guidance

    Checked against CMT UK, specialist neuromuscular centres and peer-reviewed sources you can see at the end.

  • 03

    Current for 2026

    Reflects modern UK practice including genetic panels, orthotic care and ongoing trials of disease-modifying therapies.

Key facts

CMT at a glance.

The essentials, in plain English - what CMT is, how it presents and how it is diagnosed and managed in the UK today.

  • What it is

    A group of inherited peripheral neuropathies affecting sensory and motor nerves in a slowly progressive, length-dependent pattern.

  • How common

    The most common inherited neurological disorder, affecting roughly 1 in 2,500 people worldwide.

  • Main types

    CMT1 (demyelinating, most common - includes the PMP22 duplication CMT1A), CMT2 (axonal), CMT4 (recessive), CMTX (X-linked) and intermediate forms.

  • Classic picture

    Distal leg wasting with an inverted champagne bottle shape, pes cavus foot deformity, hammer toes, tripping and ankle sprains.

  • Diagnosis

    Family history, neurological examination, nerve conduction studies and a targeted genetic panel - PMP22 duplication first.

  • Treatment

    No cure yet - management is multidisciplinary with physiotherapy, orthotics, foot surgery, neuropathic pain control and drug-avoidance advice.

Why this guide matters

A lifelong condition with a clear plan.

CMT is not curable yet, but it is highly manageable. The three points below shape everything else on this page.

  • Genetic testing pins down the subtype

    Once nerve conduction studies point to CMT, a targeted gene panel identifies the subtype and guides prognosis, family testing and access to trials.

  • Function is preserved by the team

    Neurology, physio, occupational therapy, orthotics and orthopaedic surgery together keep people walking and independent for longer than any single intervention.

  • Some drugs must be avoided

    Vincristine is contraindicated in CMT1A and several other medicines can worsen the neuropathy - every prescriber and pharmacist should know.

How the diagnosis is made

From first symptoms to a clear diagnosis.

The steps a UK neurologist or specialist neuromuscular clinic will normally follow, in order - so you know what to expect and why.

  1. 01

    Assessing

    Family and inheritance history

    A three-generation pedigree helps distinguish autosomal dominant, recessive and X-linked patterns and points towards likely genes.

  2. 02

    Assessing

    Full neurological examination

    Distal wasting, foot posture, gait, reflexes, sensory testing and hand function are assessed and scored.

  3. 03

    Assessing

    Nerve conduction studies and EMG

    The single most useful test - slow conduction velocities under 38 m/s suggest CMT1 (demyelinating); reduced amplitudes suggest CMT2 (axonal).

  4. 04

    Confirming

    Bloods to exclude acquired causes

    B12, thyroid, CK, inflammatory markers, heavy metals and porphyria screening rule out mimics before genetic testing.

  5. 05

    Confirming

    Genetic panel testing

    A CMT gene panel of 30 or more genes is used, with PMP22 duplication testing first because it accounts for around 70% of cases.

  6. 06

    Planning

    MRI and further imaging

    Selective spine, brain or peripheral nerve MRI is used when the pattern is unusual or another diagnosis needs excluding.

  7. 07

    Planning

    Specialist referral and counselling

    Neuromuscular clinic input, genetic counselling, cascade testing for relatives and reproductive options are discussed early.

Typical timeline: weeks for nerve conduction studies, and further weeks for the genetic panel to return.

Symptoms

What CMT actually looks like.

Slowly progressive distal weakness, foot deformity and sensory loss - and the features that mean a specialist opinion is needed sooner.

  • Distal leg wasting

    Progressive weakness and thinning of the feet and calves - the classic inverted champagne bottle appearance.

  • Pes cavus and hammer toes

    High-arched feet with clawed toes - often the first visible clue in children and teenagers.

  • Frequent trips and ankle sprains

    Weak ankle dorsiflexion causes foot drop, catching the toes and repeated inversion injuries.

  • Hand wasting later on

    Small hand muscles thin out over years, with reduced grip, difficulty with buttons, zips and fine motor tasks.

  • Reduced or absent reflexes

    Ankle jerks are typically lost early, with wider reflex loss as the neuropathy progresses.

  • Stocking and glove sensory loss

    Reduced light touch, vibration and joint position sense in the feet and hands, often with numb patches rather than pain.

  • Hearing loss or optic atrophy

    Some subtypes affect cranial nerves - hearing, vision or vocal cord function can be involved.

  • Red flag - breathing involvement

    Rare CMT2C and severe forms can affect the diaphragm and phrenic nerve, causing breathlessness that needs urgent respiratory review.

Treatment

How CMT is managed in the UK.

Multidisciplinary and supportive - physiotherapy, orthotics, occupational therapy, targeted foot and ankle surgery, careful pain control and genetic counselling.

  • Physiotherapy

    Strength work, calf and hamstring stretching, balance training and gait retraining preserve function and reduce falls.

  • Occupational therapy

    Adaptive equipment, splints for the hands, home and workplace changes - all keep independence for longer.

  • Ankle-foot orthoses

    AFOs, supportive boots and custom insoles improve gait, reduce foot drop and prevent ankle inversion injuries.

  • Foot and ankle surgery

    Plantar release, tendon transfer, Jones procedure, calcaneal osteotomy or triple arthrodesis for painful, disabling pes cavus - via a specialist CMT foot service.

  • Neuropathic pain medicines

    Gabapentin, pregabalin, amitriptyline or duloxetine ease neuropathic pain when present - many people with CMT need little pain treatment.

  • Drug-avoidance advice

    Vincristine (contraindicated in CMT1A), platinum agents, taxanes, amiodarone, colchicine and nitrofurantoin can worsen the neuropathy - always flag CMT to prescribers.

  • Genetic counselling

    Cascade testing for relatives, discussion of inheritance risk and reproductive options including preimplantation genetic diagnosis.

  • Respiratory support

    Overnight non-invasive ventilation is considered when the diaphragm is affected - assessed by a neuromuscular respiratory team.

For complex foot deformity, see our orthopaedic surgery clinic and tendon transfer pages, and for hands-on rehab our physio clinic.

What this guide is based on

The sources behind every claim on this page.

UK charity, specialist centre and international society guidance, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your neurologist, GP or specialist neuromuscular team knows your history and can tell you which parts apply to you. If in doubt, get seen.

  • CMT UK. Patient information and clinical resources on Charcot-Marie-Tooth disease.

  • NHS specialist neuromuscular centres (UCL, Newcastle, Sheffield, Oxford, Great Ormond Street). Clinical service standards.

  • European Federation of Neurological Societies / Peripheral Nerve Society. Guideline on the management of CMT.

  • BNF and MHRA guidance on neurotoxic drugs relevant to hereditary neuropathy.

Red flags

When CMT needs urgent attention.

Most people with CMT are followed up in a routine clinic. These are the situations where the pace changes and specialist input is needed sooner.

  • Diaphragmatic involvement

    Breathlessness, morning headaches or disturbed sleep in CMT2C or severe subtypes - needs urgent respiratory and neuromuscular review.

  • Rapid deterioration

    CMT is slowly progressive - sudden weakness or numbness should prompt review for an added acquired cause such as inflammatory neuropathy.

  • Severe foot pain or ulceration

    Deformity, callus or non-healing ulcers on cavus feet need prompt podiatry and orthopaedic input.

  • Exposure to neurotoxic drugs

    Vincristine is contraindicated in CMT1A - any planned chemotherapy or high-risk medicine needs specialist review first.

  • New sensory ataxia or falls

    Worsening balance and falls warrant a specialist assessment and updated physio and orthotic plan.

  • Cranial nerve symptoms

    New hearing change, visual loss or hoarseness may indicate a specific subtype and needs neurology and ENT or ophthalmology input.

  • Pregnancy planning

    Genetic counselling before pregnancy allows discussion of inheritance and reproductive options.

  • Children with unexplained gait

    Toe-walking, frequent falls or foot deformity in a child with a family history warrants paediatric neurology referral.

  • Mental health impact

    Chronic mobility loss can affect mood - low mood or anxiety deserves proactive support alongside the physical management.

Living with it

A lifelong condition, with a clear plan.

Four things that make the biggest difference day to day - keeping active, wearing the right footwear, telling every prescriber and using the CMT community.

A quiet reminder

Small, consistent habits protect function.

Regular stretching, sensible footwear and early orthotic support do more over years than any short-lived push.

  1. 01 Move

    Keep moving, gently

    Regular low-impact exercise, stretching and balance work protect function - a physio familiar with CMT will tailor a plan.

  2. 02 Footwear

    Get the shoes right

    Supportive boots, custom insoles and AFOs where needed reduce trips, ankle sprains and pain during walking.

  3. 03 Flag it

    Tell every prescriber

    Carry a note or wear a medical alert - vincristine and several other drugs can seriously worsen CMT and must be avoided or reviewed.

  4. 04 Connect

    Use the CMT community

    CMT UK, specialist centres and patient groups offer practical advice, research updates and peer support that changes daily life.

Frequently asked

Everything we get asked about CMT.

Quick answers on inheritance, diagnosis, treatment and drugs to avoid.

  • What is Charcot-Marie-Tooth disease?

    CMT is a group of inherited peripheral neuropathies that slowly damage the sensory and motor nerves supplying the arms and legs. It is the most common inherited neurological disorder, affecting around 1 in 2,500 people, and it typically causes distal weakness, foot deformity and reduced sensation.

  • How is CMT inherited?

    CMT can be autosomal dominant, autosomal recessive or X-linked. CMT1A, caused by a duplication of the PMP22 gene, is dominant and accounts for around 70% of all CMT. A three-generation family history and a targeted genetic panel help identify the exact subtype and inheritance pattern.

  • How is CMT diagnosed?

    Diagnosis combines family history, neurological examination, nerve conduction studies and genetic testing. Nerve conduction studies separate demyelinating (CMT1) from axonal (CMT2) forms. Bloods exclude acquired causes such as B12 deficiency, thyroid disease and inflammatory neuropathies before genetic panels confirm the subtype.

  • Is there a cure for CMT?

    There is no cure yet. Management is multidisciplinary and focuses on preserving function through physiotherapy, occupational therapy, orthotics, targeted foot and ankle surgery, neuropathic pain relief and genetic counselling. Several disease-modifying therapies are in clinical trials.

  • Which drugs should people with CMT avoid?

    Vincristine is contraindicated in CMT1A and best avoided in other subtypes. Platinum-based chemotherapy, taxanes, amiodarone, colchicine and nitrofurantoin can also worsen the neuropathy. Always tell every prescriber and pharmacist about a CMT diagnosis so that alternatives can be considered.

  • What new treatments are being studied?

    PXT3003 (a combination of baclofen, naltrexone and sorbitol) has been in trials for CMT1A, though it has faced regulatory setbacks. PMP22 antisense oligonucleotides and gene therapy approaches are also in development. Specialist centres and CMT UK can advise on eligibility for current trials.

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