Charcot-Marie-Tooth (CMT) disease is a hereditary neurological condition that affects the peripheral nervous system. The peripheral nerves form the communication network between the brain and spinal cord and the muscles, skin and joints of the arms and legs. In CMT, these nerves do not function normally, leading to progressive weakness, muscle wasting and changes in sensation, particularly in the feet, lower legs and hands.
CMT is the most common inherited peripheral neuropathy and affects both motor nerves, which control muscle movement, and sensory nerves, which provide feedback such as touch, vibration and joint position sense. The condition is usually first noticed in childhood or adolescence, often before the age of 20, although milder forms may not become apparent until adulthood.
Although CMT is a progressive condition, it is not life-threatening and does not affect life expectancy. With appropriate management, many people with CMT remain active and independent for decades. Physiotherapy for Charcot-Marie-Tooth disease plays a central role in managing symptoms, maintaining mobility, improving balance and preventing secondary complications such as joint deformity and falls.
Key Facts
- Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy, affecting approximately 1 in 2,500 people worldwide. 🔗
- Symptoms of CMT usually begin in childhood or adolescence and progress slowly over time.
- CMT affects both motor and sensory nerves, leading to muscle weakness, foot deformity and reduced sensation.
Risk Factors
- Family history of Charcot-Marie-Tooth disease
- Presence of known genetic mutations associated with CMT
- Early childhood or adolescent onset of foot or gait abnormalities
Symptoms
- Frequent tripping or ankle sprains due to weakness in the feet and ankles
- Clumsiness and poor coordination, particularly during running or sport
- High arches (pes cavus), hammer toes or flat feet
- Muscle weakness in the lower legs, giving a thin or ‘stork-leg’ appearance
- Reduced sensation in the feet or hands, including numbness or tingling
- Difficulty with fine motor tasks such as handwriting, buttoning clothes or opening jars
- Balance difficulties and increased risk of falls
Aggravating Factors
- Walking long distances, particularly on uneven surfaces
- Prolonged standing, which increases fatigue in weak lower limb muscles
- Barefoot walking, which may worsen instability due to reduced foot control
- Poorly fitting footwear that does not accommodate foot deformity
Causes
Charcot-Marie-Tooth disease is caused by inherited genetic mutations that affect the structure and function of peripheral nerves. These mutations interfere with how nerves transmit signals from the brain and spinal cord to the muscles and sensory receptors.
There are two main categories of CMT.
- Type 1 (demyelinating) affects the myelin sheath, the insulating layer that surrounds nerve fibres and allows fast signal conduction. Around half of Type 1 cases are related to a duplication of the PMP22 gene.
- Type 2 (axonal) affects the axon itself, the central core of the nerve fibre responsible for transmitting electrical signals. Mutations in genes such as MFN2 are common in this group.
Damage to either the myelin sheath or the axon slows nerve conduction and weakens communication between the nervous system and the muscles. Over time, this leads to muscle weakness, wasting and sensory loss. Physiotherapy focuses on managing the functional consequences of this nerve damage rather than the genetic cause itself.
How Is It Diagnosed?
Diagnosis of Charcot-Marie-Tooth disease is made by a medical specialist, usually a neurologist, based on clinical examination and specialised testing. The assessment typically includes evaluation of muscle strength, reflexes, foot structure, balance and sensory changes.
Because CMT is hereditary and slowly progressive, diagnosis may take time, particularly in milder cases. Early diagnosis is important as it allows timely referral to physiotherapy, orthotics and other supports to minimise secondary complications.
Investigations & Imaging
- Nerve conduction studies
- Measure the speed and strength of nerve signals to help distinguish between Type 1 and Type 2 CMT.
- Electromyography (EMG)
- Assesses muscle activity and helps identify patterns of nerve-related weakness.
- Genetic testing
- Identifies specific gene mutations responsible for CMT, particularly in Type 1 disease.
Grading / Classification
- Mild CMT
- Minimal weakness with subtle gait changes and mild foot deformity.
- Moderate CMT
- Clear weakness in feet or hands, balance impairment and need for orthotic support.
- Severe CMT
- Significant muscle wasting, marked sensory loss and reliance on mobility aids.
Physiotherapy Management
Physiotherapy for Charcot-Marie-Tooth disease is a mainstay of long-term management. While physiotherapy cannot alter the genetic cause of CMT, it plays a critical role in maintaining strength, mobility, balance and independence. Physiotherapists tailor programs to the individual, taking into account disease severity, age and lifestyle demands.
Exercise
Charcot-Marie-Tooth physiotherapy exercises focus on maintaining strength in muscles that are less affected and supporting functional movement.
Strengthening programs often target hip muscles, thigh muscles and upper limb muscles to compensate for weakness below the knee or in the hands. Exercises are progressed carefully to avoid excessive fatigue, which can worsen symptoms.
Stretching exercises are essential in CMT rehab, particularly for the calves, ankles, toes and hands. Regular stretching helps prevent muscle and tendon shortening that contributes to foot deformities and joint stiffness.
Activity Modification
Activity modification is a key component of CMT physiotherapy. Physiotherapists help individuals adapt work, sport and daily tasks to reduce strain on weak joints and muscles. This may include pacing strategies, rest breaks and alternative movement patterns to reduce falls risk and fatigue.
Manual Therapy
Manual therapy may be used to address joint stiffness and secondary pain associated with altered movement patterns in CMT. Techniques are directed at maintaining joint mobility in the ankles, feet and hands and improving comfort during functional activities.
Bracing & Taping
Bracing and taping are frequently used in CMT management. Ankle-foot orthoses are commonly prescribed to support weak ankle muscles, improve foot clearance during walking and reduce falls. Physiotherapists work closely with orthotists to ensure bracing supports function without limiting remaining strength.
Heat & Ice
Heat and ice may be used in CMT physiotherapy to manage secondary muscle soreness or joint discomfort. Heat can assist with muscle relaxation prior to stretching, while ice may be helpful following activity if joints are irritated.
Tens
TENS may be used in some individuals with CMT to assist with pain management, particularly when neuropathic pain or joint discomfort is present. Use is guided by a physiotherapist based on individual response.
Education
Education is a major focus of physiotherapy for CMT. Physiotherapists provide advice on footwear, fatigue management, falls prevention and long-term self-management strategies to support independence across the lifespan.
Other
Other physiotherapy interventions may include balance retraining, gait re-education and advice on safe participation in low-impact exercise such as swimming or cycling to maintain cardiovascular fitness.
Other Treatments
Other treatments for CMT include occupational therapy for hand function and daily tasks, pain management strategies prescribed by medical practitioners, and podiatry for foot care and pressure management.
Surgery
Surgery is not required for most people with CMT. In more severe cases, orthopaedic surgery may be considered to correct significant foot deformities, release tight tendons or stabilise joints. Physiotherapy is essential before and after surgery to optimise outcomes.
Prognosis & Return to Activity
CMT is a slowly progressive condition, and most people have a normal life expectancy. The rate of progression and level of disability vary widely. With early intervention, ongoing physiotherapy and appropriate orthotic support, many individuals maintain independence and mobility well into adulthood and older age.
Complications
- Progressive muscle wasting in the lower legs and hands
- Development of fixed foot deformities
- Recurrent falls and ankle injuries
- Chronic pain related to joint stress or nerve involvement
Preventing Recurrence
- Regular physiotherapy-led strengthening and stretching to slow functional decline
- Use of appropriate footwear and orthoses to support alignment and walking efficiency
- Ongoing balance training to reduce falls risk as sensory loss progresses
When to See a Physio
- At diagnosis to establish a baseline physiotherapy program
- If frequent falls, ankle instability or worsening balance develops
- When foot pain, deformity or walking difficulty begins to limit daily life
- If hand weakness starts to interfere with work or self-care tasks