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EMERGENCY:CMT does not cause emergencies in most cases. However, a person with CMT who develops sudden severe weakness, a new area of numbness, or pain in a limb should be assessed to exclude a superimposed compression neuropathy or acute exacerbation. —call040-46324365immediately — 24 hours, 7 days— 24/7

PERIPHERAL NERVE DISORDERS

Charcot-Marie-Tooth Disease (CMT) in Hyderabad: The Most Common Inherited Neuropathy — Diagnosed With Nerve Conduction Studies and Genetics, Managed With Physiotherapy and Orthotics

Q: My child is 9 years old with very high-arched feet. Multiple family members have the same. Is this CMT?

Pes cavus (high-arched feet) that runs in multiple family members across generations is one of the most reliable clinical pointers to CMT. In the general population, pes cavus is often isolated and benign, but when it is combined with absent ankle reflexes, mild foot drop (difficulty lifting the foot), or numbness in the feet and ankles, CMT is the most likely diagnosis. At KIMS, the assessment begins with nerve conduction studies (NCS) — if the motor nerve conduction velocity is uniformly reduced below 38 m/s, CMT1 is confirmed without genetic testing; genetic testing then identifies the specific mutation. Early diagnosis in a 9-year-old allows: physiotherapy to slow progression, orthotic prescription, avoidance of harmful drugs, and family genetic counselling. Please call 040-44885000.

Q: I have CMT1A. My daughter is 6 years old. What are the chances she has inherited it and what should we do?

CMT1A is autosomal dominant: you have one normal PMP22 gene and one duplicated gene. Each of your daughter's parents provides one copy of each chromosome, so she has a 50% chance of inheriting the PMP22 duplication. Genetic testing can tell you definitively. At KIMS, we typically recommend testing a child when they are old enough for NCS (any age is possible) or when clinical signs appear (pes cavus, reduced ankle reflexes). For a 6-year-old with an affected parent, NCS showing uniformly reduced NCV (or normal NCV excluding the diagnosis) provides the answer and allows the appropriate management plan to be put in place. If she has CMT1A, physiotherapy from childhood, appropriate footwear, and monitoring for foot deformity gives her the best long-term functional outcome. Call 040-44885000.

Q: Is there any drug or treatment that can stop CMT from progressing?

Not currently approved, but research is actively progressing. Several approaches are in or approaching clinical trials: for CMT1A (PMP22 duplication), drugs that reduce PMP22 over-expression have shown benefit in animal models; a clinical trial of a progesterone receptor antagonist (onapristone) showed some biomarker improvement but limited clinical impact; antisense oligonucleotide (ASO) therapy targeting PMP22 mRNA is in early development. For CMT1B (MPZ), gene therapy approaches are being developed. For CMT2A (MFN2), targeting mitochondrial dynamics is a research focus. At KIMS, eligible CMT patients are informed about active trials and can receive referral letters for trial sites. In the interim, the most effective management remains physiotherapy, orthotics, and foot surgery when indicated. Call 040-44885000.

Q: My mother has CMT and is now being treated for cancer. Are there any chemotherapy drugs she should avoid?

This is critically important — please ensure your mother's oncologist knows she has CMT before any chemotherapy is prescribed. Vincristine (a vinca alkaloid used in many haematological cancer regimens) can cause a severe, irreversible worsening of CMT neuropathy — patients with CMT have developed permanent paralysis from single doses of vincristine that would be well-tolerated in a non-CMT patient. Vincristine must not be used in CMT patients except in extraordinary circumstances with very careful specialist discussion. Other drugs to avoid or use cautiously: paclitaxel, cisplatin, thalidomide, amiodarone, and high-dose pyridoxine (vitamin B6). Alternative chemotherapy regimens that avoid vincristine are available for most haematological cancers. At KIMS, a letter documenting the CMT diagnosis and drug restrictions can be provided for your mother's oncology team. Call 040-44885000.

Q: I have CMT and my feet and legs are getting progressively weaker. I have been told I may eventually need a wheelchair. Is this inevitable?

Progressive weakness is the natural history of CMT, but "eventually a wheelchair" applies to only a minority of CMT patients and usually after many decades of disease. Most people with CMT1A (the most common form) maintain independent walking throughout their lives with appropriate orthotic support, physiotherapy, and possibly foot surgery. The rate of progression is very slow in most people — often measured in millimetres of nerve conduction velocity decline per year. There is genuine variation: a small proportion have severe early-onset CMT (particularly in CMT2, CMT4, or in families with specific severe mutations) who lose walking ability earlier. At KIMS, the management plan is designed to maintain walking as long as possible: AFOs for foot drop, physiotherapy to preserve muscle strength, and foot surgery when needed. Whether you will ultimately need a wheelchair depends on your specific CMT subtype, the rate of your progression, and the quality of your management — all of which we can assess. Call 040-44885000.

Expert nerve conduction studies distinguishing demyelinating CMT1 from axonal CMT2, PMP22 duplication / deletion testing, CMT gene panel (MPZ, GJB1, MFN2, GDAP1, SH3TC2, and others), ankle-foot orthosis prescription, physiotherapy programme, foot-surgery liaison, neurotoxic-drug avoidance counselling, and family genetic counselling by the KIMS Neuroscience team at KIMS Neuroscience, Secunderabad, Hyderabad.

View Our Specialists

Charcot-Marie-Tooth disease (also called hereditary sensory and motor neuropathy, HSMN) is the most common inherited peripheral neuropathy, affecting approximately 1 in 2,500 people. It is a genetically heterogeneous group of inherited peripheral neuropathies that can result from autosomal dominant, autosomal recessive or X-linked pathogenic variants, with demyelinating, axonal, or intermediate phenotypes — so the clinical phenotype and nerve conduction study findings should be integrated with genetic testing to establish the specific subtype. It is caused by mutations in any of more than 100 genes — most commonly PMP22 (CMT1A duplication, HNPP deletion), MPZ, GJB1 (CMTX), MFN2 (CMT2A), and GDAP1 / SH3TC2 (CMT4). The disease produces slowly progressive distal weakness, pes cavus (high arches), hammer toes, foot drop, absent ankle reflexes, and distal sensory loss. CMT1 forms are demyelinating with uniformly reduced motor NCV below 38 m/s — the uniformity distinguishes hereditary demyelinating neuropathy from acquired demyelinating neuropathies like CIDP. CMT2 forms are axonal with normal or near-normal NCV but reduced CMAP and SNAP amplitudes. CMT4 (autosomal recessive) is over-represented in consanguineous Indian families and is typically earlier-onset and more severe. CMT is not life-threatening and does not affect cognition. Vincristine is absolutely contraindicated. No approved disease-modifying treatment; management is physiotherapy, ankle-foot orthoses, selective foot surgery, and genetic counselling.

NCV uniformly <38 m/s — the CMT1A signature: In CMT1A (PMP22 duplication, the commonest CMT genotype), motor nerve conduction velocity is uniformly reduced below 38 m/s across ALL nerves tested simultaneously. The UNIFORMITY is the key — it distinguishes hereditary demyelinating neuropathy from acquired demyelinating neuropathies like CIDP, where slowing is non-uniform with conduction block and temporal dispersion. NCS performed in any patient with suspected CMT should test multiple nerves to demonstrate this uniformity.
CMT subtypes and what NCS shows: CMT1A (PMP22 duplication): uniformly reduced NCV <38 m/s (demyelinating). CMT2A (MFN2): normal or near-normal NCV with reduced CMAP and SNAP amplitudes (axonal). CMTX (GJB1): intermediate NCV 25–45 m/s in males, often near-normal in carrier females. CMT4 (autosomal recessive, GDAP1 / SH3TC2 and others): demyelinating, early-onset, severe — common in consanguineous Indian families and easily missed without targeted genetic panels.
Vincristine is contraindicated — and can paralyse a CMT patient: Vincristine MUST NOT be given to a patient with CMT. Even doses tolerated by non-CMT patients can produce profound, sometimes irreversible peripheral and autonomic paralysis. Any patient receiving vincristine-containing chemotherapy with foot drop, high arches, or a family history of CMT needs urgent CMT evaluation before the next dose. Other drugs to avoid or use cautiously: high-dose pyridoxine, amiodarone, didanosine, stavudine, nitrofurantoin.
HNPP — the same gene, the opposite mutation: Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by PMP22 DELETION — the opposite of CMT1A's PMP22 duplication. Presents with recurrent, transient focal nerve palsies (ulnar at the elbow, peroneal at the fibular head, radial in the spiral groove) precipitated by minor pressure. Nerve biopsy shows tomacula (sausage-like myelin thickenings). Recognising HNPP allows simple behavioural advice (avoid leaning on elbows, crossing legs) to prevent further episodes.
CMT4 and consanguinity in Indian families: CMT4 (autosomal recessive demyelinating CMT) is over-represented in Indian families with consanguineous marriages and is genetically heterogeneous (GDAP1, SH3TC2, MTMR2, NDRG1, others). It typically presents earlier and is more severe than CMT1A. Targeted CMT gene panels — not single-gene PMP22 testing — are essential in any consanguineous family with childhood-onset demyelinating neuropathy.
Onion bulbs on biopsy — the pathological hallmark: Concentric layers of Schwann cell processes wrapping around an axon, produced by repeated cycles of demyelination and remyelination. Visible on nerve biopsy (sural nerve). Onion bulb formation is the classic histological hallmark of chronic demyelinating neuropathy, including CMT1 and CMT4. Genetic testing has largely replaced biopsy, but biopsy remains useful when genetic panels are negative.
Management — physiotherapy, orthotics, selective surgery: CMT is not life-threatening and does not affect cognition. Most patients live full independent lives. The pillars of management: physiotherapy and stretching to preserve range of movement; ankle-foot orthoses (AFOs) to manage foot drop; orthopaedic surgery for severe pes cavus, hammer toes, or hindfoot deformity; genetic counselling. Surveillance for sleep-disordered breathing in advanced CMT. No approved disease-modifying treatment yet — multiple trials in progress for CMT1A.

Fact	Details
Definition	Most common inherited peripheral neuropathy (~1 in 2,500) · Heterogeneous (PMP22, MPZ, GJB1, MFN2, GDAP1 and many more) · Demyelinating (CMT1) or axonal (CMT2)
Classic presentation	Distal weakness · Foot drop · Pes cavus (high arches) · Hammer toes · Absent ankle reflexes · Distal sensory loss · Family history common
NCS pattern (CMT1A)	Uniformly reduced motor NCV <38 m/s across all nerves · Uniformity distinguishes CMT from CIDP (non-uniform, with conduction block)
Drugs to avoid	Vincristine — ABSOLUTELY contraindicated (can cause irreversible paralysis) · Caution: amiodarone, nitrofurantoin, didanosine, stavudine, high-dose pyridoxine
CMT4 and consanguinity	Autosomal recessive CMT4 is common in consanguineous Indian families · Earlier onset and more severe than CMT1A · Requires gene panel, not single-gene PMP22 testing
HNPP	PMP22 deletion (opposite of CMT1A duplication) · Recurrent focal pressure palsies (ulnar, peroneal, radial) · Behavioural advice prevents further episodes
Treatment	No approved DMT · Physiotherapy + AFOs + selective foot surgery + genetic counselling · Surveillance for sleep-disordered breathing in advanced CMT

About This Condition

Charcot-Marie-Tooth Disease at a Glance

The essential facts that shape how CMT is recognised, classified, and managed at KIMS — from the 1-in-2,500 prevalence and the demyelinating-vs-axonal NCS distinction, to the family-history pattern that is so often missed in India, and the hallmarks of pes cavus, foot drop, and absent ankle reflexes.

What it is

Charcot-Marie-Tooth disease (CMT), also known as Hereditary Motor and Sensory Neuropathy (HMSN or HSMN), is the most common inherited disorder of the peripheral nervous system, affecting approximately 1 in 2,500 people worldwide. It is caused by mutations in genes encoding myelin proteins (demyelinating forms, CMT1) or axonal structural proteins (axonal forms, CMT2), producing progressive deterioration of the peripheral nerves supplying the distal limbs. CMT is not a single disease but a clinically and genetically heterogeneous group of disorders with over 100 causative genes identified. Hereditary motor sensory neuropathy (HMSN), commonly referred to as Charcot-Marie-Tooth disease, is a genetically heterogeneous group of inherited peripheral neuropathies. It can result from autosomal dominant, autosomal recessive or X-linked pathogenic variants, with different demyelinating, axonal, or intermediate phenotypes. Therefore, the clinical phenotypes and nerve conduction study findings should be integrated with genetic testing to establish the specific subtype.

The hallmarks

Progressive distal limb weakness and wasting: foot drop (the inability to lift the foot normally when walking, producing a characteristic stepping or high-stepping gait), progressive wasting of the muscles below the knee producing the "inverted champagne bottle" or "stork leg" appearance. Pes cavus: high-arched feet, usually from childhood — the earliest and most consistent structural sign. Hammer toes. Absent or reduced deep tendon reflexes (particularly ankle jerks, absent from early in the disease). Sensory loss in the feet and lower legs (reduced vibration, proprioception, and pain/temperature). Mild sensory symptoms (numbness, occasional tingling) but rarely severe neuropathic pain.

How common in India

CMT is significantly underdiagnosed in India. The typical family history — multiple family members with high-arched feet, clumsiness, and foot drop — is often attributed to "weakness", orthopaedic problems, or cerebral palsy. Many families in India carry the diagnosis for decades without ever receiving genetic confirmation or even a clear diagnosis name. At KIMS, nerve conduction studies and genetic testing identify CMT and its specific subtype, enabling appropriate management and genetic counselling.

Key distinction: demyelinating vs axonal

Nerve conduction studies are the essential first test. Demyelinating CMT (CMT1): motor nerve conduction velocity (NCV) uniformly reduced below 38 m/s — the hallmark of CMT1A (PMP22 duplication). Axonal CMT (CMT2): NCV is normal or near-normal, but the amplitude of the nerve action potential is reduced — reflecting axon loss rather than myelin loss. This NCS distinction guides genetic testing: demyelinating CMT → test for PMP22 duplication first; axonal CMT → broader gene panel including MFN2, GDAP1 and others.

Appointment

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About This Condition

The Family That All Had the Same Feet

A 28-year-old woman in Hyderabad comes to KIMS concerned about progressive foot weakness. She has had high-arched feet since childhood — “just like my father and my grandmother.” She trips frequently and cannot run. Over the past few years, her feet have felt increasingly numb. She cannot feel the ground properly when she walks barefoot. Her ankle reflexes are absent.

Her father is with her. He also has high-arched feet, absent ankle reflexes, and mild hand weakness. He was told at 45 that he had “peripheral neuropathy” but was never given a specific diagnosis. Her 8-year-old son has already been noted to have unusually high arches.

At KIMS, nerve conduction studies are performed. The results are striking: motor NCV in the median nerve is 24 m/s (normal: >48 m/s). Peroneal NCV: 22 m/s. Sural sensory: absent. This pattern — uniformly severely reduced NCV, affecting all nerves tested, in both upper and lower limbs simultaneously — is the hallmark of a hereditary demyelinating neuropathy. Combined with the family history and clinical picture, CMT1 is the diagnosis. Genetic testing: PMP22 gene duplication on chromosomal microarray — CMT1A, the most common form.

The management plan at KIMS: ankle-foot orthoses (AFOs) for foot drop; physiotherapy programme for lower limb strengthening and fall prevention; avoidance of neurotoxic drugs (vincristine, high-dose pyridoxine, amiodarone); genetic counselling (autosomal dominant, 50% risk per child); and referral for orthopaedic assessment of foot deformity. Her son is offered genetic testing, which confirms he has also inherited the PMP22 duplication. His physiotherapy begins immediately.

Book a Consultation

Speak directly with The KIMS Neuroscience team and the KIMS CMT specialist team — neurology, clinical neurophysiology (NCS / EMG), clinical genetics, orthopaedics, physiotherapy, and orthotics under one roof. Cascade testing for affected families arranged with priority. No referral required. Monday to Saturday.

040-44885000Sudden weakness / new numbness: 040-44885000

Understanding the Disease

CMT Subtypes — Reference Guide

CMT is not a single disease but a clinically and genetically heterogeneous family of neuropathies, with over 90 causative genes. The cards below summarise the six most clinically important subtypes — CMT1A (the most common), CMT1B, CMTX, CMT2A, the autosomal-recessive CMT4 subtypes (relevant for consanguineous Indian families), and HNPP — with their genes, inheritance, key features, and diagnostic tests.

CMT1A

PMP22 duplication (17p11.2) — AD — most common ~50%

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Most common CMT (~50%). Demyelinating: NCV <38 m/s.

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Pes cavus, distal weakness and wasting, absent reflexes. Onset childhood. Slow progression.

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Diagnostic test: NCS shows uniformly slow NCV; genetic confirmation by PMP22 duplication on chromosomal microarray.

CMT1B

MPZ / P0 mutation — AD

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Second most common demyelinating CMT. Similar to CMT1A.

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Some severe early-onset forms; some adult-onset milder forms (CMT1B range is wide).

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Diagnostic test: NCS demyelinating; genetic confirmation by MPZ sequencing.

CMTX (CMT X-linked)

GJB1 / Connexin 32 — X-linked

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Males: moderate severity, intermediate NCV. Females: mild.

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No male-to-male transmission.

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Diagnostic test: NCS shows intermediate NCV (25–45 m/s) in males; genetic confirmation by GJB1 sequencing.

CMT2A

MFN2 mutation (Mitofusin 2) — AD

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Most common axonal CMT. Axonal: normal or near-normal NCV, reduced amplitude.

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Can be severe in early-onset forms. Optic atrophy in some.

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Diagnostic test: NCS axonal pattern; genetic confirmation by MFN2 sequencing.

CMT4 subtypes

GDAP1, SH3TC2, MTMR2, others — AR

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Autosomal recessive CMT. Often more severe and earlier onset.

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Common in consanguineous Indian families.

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Diagnostic test: targeted genetic panel including GDAP1, SH3TC2 and others.

HNPP

PMP22 deletion — AD — milder than CMT1A

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Hereditary Neuropathy with Pressure Palsies.

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Recurrent focal nerve palsies at pressure points (carpal tunnel, fibular head). Milder than CMT1A.

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Diagnostic test: NCS shows focal slowing at compression sites; genetic confirmation by PMP22 deletion.

Recognising CMT

Clinical Features of CMT

The clinical profile of CMT spans the earliest structural sign of pes cavus, the foot-drop and steppage gait that brings most patients to clinic, the stork-leg distal muscle wasting, the usually mild sensory loss, and a critical practical issue — the neurotoxic drugs that must be avoided to prevent dramatic worsening.

Pes cavus — the earliest and most constant sign

High-arched feet (pes cavus) are the hallmark structural deformity of CMT, present from childhood in most cases, often years before weakness or sensory loss is noticed. The arch forms because the intrinsic foot muscles (controlled by the most distal, most vulnerable motor nerve fibres) weaken disproportionately, pulling the foot into a cavus position. Pes cavus in a child, particularly when present in multiple family members, is CMT until proven otherwise. Hammer toes commonly accompany pes cavus from the same muscle imbalance.

Foot drop and the steppage gait

As the tibialis anterior muscle (which lifts the foot) weakens from peroneal nerve involvement, the patient cannot lift the front of the foot during walking. This produces foot drop: the foot slaps on the ground with each step. To clear the foot without tripping, the patient raises the knee excessively — the steppage gait. Falls, particularly on stairs or uneven ground, become increasingly frequent. Ankle-foot orthoses (AFOs) at KIMS correct foot drop mechanically and dramatically reduce falls.

Distal muscle wasting — the stork leg

Progressive wasting of the muscles below the knee (peroneal muscles, tibialis anterior, intrinsic foot muscles) while the thigh muscles remain relatively normal produces the classic "inverted champagne bottle" or "stork leg" appearance: thin, wasted lower legs with normal or near-normal thighs. Later in the disease, hand and forearm muscles also waste — producing difficulty with fine tasks, jar opening, and grip. Upper limb involvement is more prominent in some CMT subtypes (particularly CMT2).

Sensory loss — usually mild, rarely the main complaint

Sensory nerve involvement produces reduced vibration sense in the feet (loss of vibration at the ankle detected on tuning fork examination), reduced proprioception (sense of joint position), and reduced or absent pain and temperature sensation in the feet and lower legs. Despite the sensory nerve involvement, severe neuropathic pain is relatively uncommon in CMT compared to acquired neuropathies. When pain does occur, it is usually in the feet and ankles.

Drugs to avoid in CMT — important and often missed

Certain medications can dramatically worsen CMT by further damaging already vulnerable peripheral nerves. At KIMS, every CMT patient is given a list of drugs to avoid: vincristine (a chemotherapy agent that can cause irreversible severe neuropathy in CMT — any oncologist treating a CMT patient must be informed of the diagnosis before chemotherapy is prescribed); high-dose pyridoxine (vitamin B6); amiodarone; certain HIV antiretroviral drugs (didanosine, stavudine); and nitrofurantoin. Alcohol excess also worsens CMT neuropathy.

Diagnosis at KIMS

Diagnosis at KIMS — NCS, Genetic Testing & Nerve Biopsy

CMT diagnosis at KIMS begins with nerve conduction studies (which classify the neuropathy as demyelinating, axonal, or intermediate and distinguish CMT from acquired neuropathies like CIDP), followed by genetic testing guided by the NCS pattern (PMP22 duplication / deletion, MPZ, GJB1, MFN2, GDAP1, SH3TC2 and others). Nerve biopsy is rarely required when genetic testing is available.

Nerve conduction studies (NCS) — the essential first investigation

NCS at KIMS measures motor NCV, sensory NCV and amplitude in multiple nerves. Demyelinating CMT (CMT1): uniformly reduced motor NCV — below 38 m/s in the median nerve (CMT1A is typically 20–25 m/s). The uniformity is important — CMT demyelination affects all nerves equally, unlike acquired demyelinating neuropathies (CIDP, GBS) where slowing is non-uniform. Axonal CMT (CMT2): normal or near-normal NCV with reduced compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitude. Intermediate NCV (25–45 m/s): suggests CMTX (GJB1 mutation) in males.

Genetic testing — confirming the specific CMT subtype

After NCS classification (demyelinating vs axonal vs intermediate): demyelinating → test for PMP22 duplication (chromosomal microarray or MLPA) first; if negative, sequence MPZ and other CMT1 genes. Axonal → targeted panel including MFN2, GDAP1, NEFL, and others. Intermediate (CMTX pattern in male) → GJB1 sequencing. In consanguineous Indian families with demyelinating or axonal CMT: autosomal recessive CMT4 genes (GDAP1, SH3TC2, MTMR2, etc.) should be included in the panel. At KIMS, CMT genetic testing is coordinated through accredited molecular genetics laboratories.

Nerve biopsy — rarely needed

Sural nerve biopsy (skin biopsy or sural nerve biopsy) is rarely required for CMT diagnosis when genetic testing is available. It is considered when NCS and genetics are inconclusive and when acquired demyelinating neuropathy (CIDP) cannot be excluded clinically. The characteristic finding in CMT1 on biopsy: onion bulb formation (concentric layers of Schwann cell processes around a demyelinated axon from repeated demyelination-remyelination cycles).

Treatment

Management at KIMS — Physiotherapy, Orthotics, Foot Surgery & Genetic Counselling

CMT management at KIMS is built around four integrated pillars — physiotherapy as the most evidence-based long-term intervention, orthotics (especially AFOs for foot drop), foot surgery for severe pes cavus, and genetic counselling for the family — with active avoidance of neurotoxic drugs and ongoing awareness of clinical trials.

Four Management Pillars in CMT

Physiotherapy, orthotics, foot surgery & genetic counselling

Physiotherapy — The Most Important Long-Term Intervention: No drug currently stops CMT from progressing. Physiotherapy is the most evidence-based long-term management strategy. At KIMS: lower limb strengthening exercise programme (targeting tibialis anterior and intrinsic foot muscles with graded resistance exercises); proprioceptive training and balance exercises to reduce falls; stretching for ankle plantarflexor contractures; supervised aerobic conditioning (improves functional capacity and general health without worsening the neuropathy). Physiotherapy does not halt disease progression but slows functional decline and maintains walking ability and quality of life for longer.

Orthotics — AFOs, insoles & hand splints: Ankle-foot orthosis (AFO): corrects foot drop, prevents ankle sprains, significantly reduces falls — the most impactful single intervention for CMT gait. Custom-moulded at KIMS-coordinated orthotics services. Insoles and arch supports: for pes cavus, reduce pressure points and improve gait mechanics. Hand splints: for intrinsic muscle wasting and wrist drop in CMT2 and severe CMT1.

Foot Surgery: When pes cavus is severe and causing pain, skin breakdown, or significantly impairing walking despite orthotics, surgical correction is considered. Procedures: Steindler stripping (plantar fasciotomy to reduce the arch), tendon transfers, calcaneal osteotomy, and in severe cases triple arthrodesis (fusion of hindfoot joints for stability). At KIMS, orthopaedic surgical assessment for CMT foot deformity is coordinated with the neurology team — surgery should not be performed without understanding the underlying neuropathy, as recovery and outcome differ from acquired foot problems.

Genetic Counselling: After CMT genetic diagnosis at KIMS: counselling covers the inheritance pattern of the specific subtype (autosomal dominant for CMT1A, 1B; X-linked for CMTX; autosomal recessive for CMT4), the 50% or 25% risk for children, the variable expressivity (family members with the same mutation may have very different severity), and the option of prenatal or preimplantation genetic testing for families who wish to prevent transmission.

Related Conditions

CMT / HSMN belongs to the family of hereditary polyneuropathies and leukodystrophies evaluated and managed at KIMS Neuroscience:

Refsum Disease Adrenoleukodystrophy Metachromatic Leukodystrophy

FAQs

Frequently Asked Questions

Pes cavus (high-arched feet) that runs in multiple family members across generations is one of the most reliable clinical pointers to CMT. In the general population, pes cavus is often isolated and benign, but when it is combined with absent ankle reflexes, mild foot drop (difficulty lifting the foot), or numbness in the feet and ankles, CMT is the most likely diagnosis. At KIMS, the assessment begins with nerve conduction studies (NCS) — if the motor nerve conduction velocity is uniformly reduced below 38 m/s, CMT1 is confirmed without genetic testing; genetic testing then identifies the specific mutation. Early diagnosis in a 9-year-old allows: physiotherapy to slow progression, orthotic prescription, avoidance of harmful drugs, and family genetic counselling. Please call 040-44885000.

CMT1A is autosomal dominant: you have one normal PMP22 gene and one duplicated gene. Each of your daughter's parents provides one copy of each chromosome, so she has a 50% chance of inheriting the PMP22 duplication. Genetic testing can tell you definitively. At KIMS, we typically recommend testing a child when they are old enough for NCS (any age is possible) or when clinical signs appear (pes cavus, reduced ankle reflexes). For a 6-year-old with an affected parent, NCS showing uniformly reduced NCV (or normal NCV excluding the diagnosis) provides the answer and allows the appropriate management plan to be put in place. If she has CMT1A, physiotherapy from childhood, appropriate footwear, and monitoring for foot deformity gives her the best long-term functional outcome. Call 040-44885000.

Not currently approved, but research is actively progressing. Several approaches are in or approaching clinical trials: for CMT1A (PMP22 duplication), drugs that reduce PMP22 over-expression have shown benefit in animal models; a clinical trial of a progesterone receptor antagonist (onapristone) showed some biomarker improvement but limited clinical impact; antisense oligonucleotide (ASO) therapy targeting PMP22 mRNA is in early development. For CMT1B (MPZ), gene therapy approaches are being developed. For CMT2A (MFN2), targeting mitochondrial dynamics is a research focus. At KIMS, eligible CMT patients are informed about active trials and can receive referral letters for trial sites. In the interim, the most effective management remains physiotherapy, orthotics, and foot surgery when indicated. Call 040-44885000.

This is critically important — please ensure your mother's oncologist knows she has CMT before any chemotherapy is prescribed. Vincristine (a vinca alkaloid used in many haematological cancer regimens) can cause a severe, irreversible worsening of CMT neuropathy — patients with CMT have developed permanent paralysis from single doses of vincristine that would be well-tolerated in a non-CMT patient. Vincristine must not be used in CMT patients except in extraordinary circumstances with very careful specialist discussion. Other drugs to avoid or use cautiously: paclitaxel, cisplatin, thalidomide, amiodarone, and high-dose pyridoxine (vitamin B6). Alternative chemotherapy regimens that avoid vincristine are available for most haematological cancers. At KIMS, a letter documenting the CMT diagnosis and drug restrictions can be provided for your mother's oncology team. Call 040-44885000.

Progressive weakness is the natural history of CMT, but "eventually a wheelchair" applies to only a minority of CMT patients and usually after many decades of disease. Most people with CMT1A (the most common form) maintain independent walking throughout their lives with appropriate orthotic support, physiotherapy, and possibly foot surgery. The rate of progression is very slow in most people — often measured in millimetres of nerve conduction velocity decline per year. There is genuine variation: a small proportion have severe early-onset CMT (particularly in CMT2, CMT4, or in families with specific severe mutations) who lose walking ability earlier. At KIMS, the management plan is designed to maintain walking as long as possible: AFOs for foot drop, physiotherapy to preserve muscle strength, and foot surgery when needed. Whether you will ultimately need a wheelchair depends on your specific CMT subtype, the rate of your progression, and the quality of your management — all of which we can assess. Call 040-44885000.

High-arched feet in a family where three generations have the same feet and trip on stairs. A child labelled as clumsy who is actually developing foot drop. A nerve conduction study showing 22 m/s where the normal is 48+. CMT is the most common inherited neuropathy and it is diagnosable, manageable, and liveable.

At KIMS Neuroscience, Secunderabad, Hyderabad, NCS, PMP22 testing, CMT gene panel, AFO prescription, physiotherapy programme, and genetic counselling are coordinated as one service. Call 040-44885000 to book a CMT assessment.

040-44885000

International enquiries: info@kimsneurosciences.com