Charcot-Marie-Tooth Disease Physiotherapy.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy — a group of inherited disorders that affect the peripheral nerves, causing progressive muscle weakness, sensory loss and foot deformity. Named after the three physicians who first described it in 1886 — Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth — CMT affects approximately 1 in 2,500 people worldwide, making it one of the most prevalent inherited neurological conditions.
CMT is caused by mutations in genes responsible for the structure and function of peripheral nerve myelin or the axons themselves. It is not a single condition but a family of related disorders — over 90 causative gene mutations have been identified — classified into types based on the nerve component primarily affected and the pattern of inheritance. CMT type 1 (demyelinating) and CMT type 2 (axonal) are the most common forms. The condition is inherited, but the specific presentation, severity and rate of progression vary significantly even within families carrying the same mutation.
What are the symptoms?
CMT typically presents in adolescence or early adulthood, though onset can occur at any age. Symptoms progress slowly and vary significantly between individuals — some people have mild symptoms throughout their lives while others experience significant functional impairment.
The most common presentations include progressive weakness and wasting of the muscles of the feet and lower legs — producing the characteristic high-arched feet (pes cavus) and hammertoes seen in many CMT patients — and weakness of the hands and forearms in more advanced cases. Sensory changes including reduced sensation, numbness and tingling in the feet and hands are common. Foot drop — difficulty lifting the front of the foot during walking — is a characteristic CMT gait impairment that significantly affects walking safety and efficiency. Balance and coordination difficulties from both the motor weakness and the sensory loss contribute to falls risk in more advanced presentations.
Peripheral neuropathy — in which CMT is the most common inherited form — produces these symptoms through progressive damage to the peripheral nerves that carry signals between the brain, spinal cord and the rest of the body.
How is CMT diagnosed?
Diagnosis typically involves clinical assessment by a neurologist — evaluating the pattern of weakness, sensory loss and reflexes — combined with nerve conduction studies and electromyography (EMG) to characterise the type of neuropathy, and genetic testing to identify the specific causative mutation. Family history is an important diagnostic consideration given the inherited nature of the condition.
How can physiotherapy help?
Physiotherapy is the primary allied health intervention for CMT. While no cure or disease-modifying treatment currently exists for most forms of CMT, physiotherapy has strong evidence for improving and maintaining function, reducing disability and improving quality of life across all stages of the condition. The goals of physiotherapy are to maintain strength and flexibility, optimise walking mechanics, reduce falls risk, manage foot and ankle deformity, and support the person to remain as physically active and functionally independent as possible.
Strength training is the most important physiotherapy intervention in CMT. Resistance exercise targeting the affected muscle groups — particularly the ankle dorsiflexors, invertors and intrinsic foot muscles — slows the rate of strength loss and maintains functional capacity longer than inactivity. The evidence consistently supports moderate-intensity strength training as safe and beneficial in CMT — concerns that exercise might accelerate nerve damage have not been supported by research. Our exercise physiologist Ash O'Regan provides specifically designed strength and conditioning programs for CMT patients.
Stretching and flexibility — maintaining the flexibility of the ankle, foot and calf musculature counteracts the progressive tightening that accompanies muscle imbalance in CMT. Achilles tendon and calf stretching, plantar fascia mobilisation and toe mobility work are important components of a CMT home exercise program. As foot deformity progresses — with increasing pes cavus and toe contracture — stretching becomes increasingly important for maintaining comfort and walking mechanics.
Balance and falls prevention — the combination of motor weakness, sensory loss and foot deformity in CMT significantly elevates falls risk. Balance training — progressive challenges to static and dynamic balance in safe, supported environments — maintains the postural control strategies that compensate for the peripheral sensory deficit. Our Balance and Bones exercise classes provide a structured group environment for progressive balance and strength training relevant to CMT and other neurological conditions.
Gait retraining and orthotic advice — foot drop is one of the most functionally significant CMT impairments and one of the most amenable to orthotic management. Ankle foot orthoses (AFOs) correct foot drop during walking, significantly improving walking safety and efficiency and reducing the energy cost of walking. Our physiotherapists assess gait and provide specific orthotic recommendations and referral to orthotists where indicated. Walking aids, footwear advice and home environment modifications are also assessed where needed.
Clinical Pilates — provides a controlled, progressive environment for strength, balance and movement quality work that is particularly well suited to neurological conditions including CMT. The reformer's spring resistance system allows precise loading at levels appropriate to the individual's current capacity and can be adjusted as strength changes over time.
Pain management — neuropathic pain, muscle cramps and fatigue are common CMT symptoms that physiotherapy can address through manual therapy, heat therapy, gentle exercise and education about symptom management strategies.
What to expect at Articulate
At Articulate Physiotherapy in Tarragindi we take a genuinely long-term approach to CMT management — understanding that this is a lifelong condition requiring ongoing physiotherapy support rather than a discrete episode of treatment. We work collaboratively with your neurologist, orthotist and other treating practitioners to ensure a coordinated approach.
Our specialist experience in neurological conditions and peripheral neuropathies — alongside our exercise physiology and clinical Pilates capabilities — means we can address the full spectrum of CMT's physical consequences under one roof. We also have specific expertise in hypermobility and connective tissue conditions through Yulia Khasyanova, whose understanding of complex neurological and connective tissue presentations is relevant to the atypical CMT presentations that can overlap with other inherited conditions.
For more information about CMT, the CMT Association of Australia is a valuable resource for patients and families navigating a new diagnosis.
Our physiotherapists Mauricio Bara, Yulia Khasyanova and Eliane Machado are all members of the Australian Physiotherapy Association and experienced in neurological condition management.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy — a group of inherited disorders that affect the peripheral nerves, causing progressive muscle weakness, sensory loss and foot deformity. Named after the three physicians who first described it in 1886 — Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth — CMT affects approximately 1 in 2,500 people worldwide, making it one of the most prevalent inherited neurological conditions.
CMT is caused by mutations in genes responsible for the structure and function of peripheral nerve myelin or the axons themselves. It is not a single condition but a family of related disorders — over 90 causative gene mutations have been identified — classified into types based on the nerve component primarily affected and the pattern of inheritance. CMT type 1 (demyelinating) and CMT type 2 (axonal) are the most common forms. The condition is inherited, but the specific presentation, severity and rate of progression vary significantly even within families carrying the same mutation.
What are the symptoms?
CMT typically presents in adolescence or early adulthood, though onset can occur at any age. Symptoms progress slowly and vary significantly between individuals — some people have mild symptoms throughout their lives while others experience significant functional impairment.
The most common presentations include progressive weakness and wasting of the muscles of the feet and lower legs — producing the characteristic high-arched feet (pes cavus) and hammertoes seen in many CMT patients — and weakness of the hands and forearms in more advanced cases. Sensory changes including reduced sensation, numbness and tingling in the feet and hands are common. Foot drop — difficulty lifting the front of the foot during walking — is a characteristic CMT gait impairment that significantly affects walking safety and efficiency. Balance and coordination difficulties from both the motor weakness and the sensory loss contribute to falls risk in more advanced presentations.
Peripheral neuropathy — in which CMT is the most common inherited form — produces these symptoms through progressive damage to the peripheral nerves that carry signals between the brain, spinal cord and the rest of the body.
How is CMT diagnosed?
Diagnosis typically involves clinical assessment by a neurologist — evaluating the pattern of weakness, sensory loss and reflexes — combined with nerve conduction studies and electromyography (EMG) to characterise the type of neuropathy, and genetic testing to identify the specific causative mutation. Family history is an important diagnostic consideration given the inherited nature of the condition.
How can physiotherapy help?
Physiotherapy is the primary allied health intervention for CMT. While no cure or disease-modifying treatment currently exists for most forms of CMT, physiotherapy has strong evidence for improving and maintaining function, reducing disability and improving quality of life across all stages of the condition. The goals of physiotherapy are to maintain strength and flexibility, optimise walking mechanics, reduce falls risk, manage foot and ankle deformity, and support the person to remain as physically active and functionally independent as possible.
Strength training is the most important physiotherapy intervention in CMT. Resistance exercise targeting the affected muscle groups — particularly the ankle dorsiflexors, invertors and intrinsic foot muscles — slows the rate of strength loss and maintains functional capacity longer than inactivity. The evidence consistently supports moderate-intensity strength training as safe and beneficial in CMT — concerns that exercise might accelerate nerve damage have not been supported by research. Our exercise physiologist Ash O'Regan provides specifically designed strength and conditioning programs for CMT patients.
Stretching and flexibility — maintaining the flexibility of the ankle, foot and calf musculature counteracts the progressive tightening that accompanies muscle imbalance in CMT. Achilles tendon and calf stretching, plantar fascia mobilisation and toe mobility work are important components of a CMT home exercise program. As foot deformity progresses — with increasing pes cavus and toe contracture — stretching becomes increasingly important for maintaining comfort and walking mechanics.
Balance and falls prevention — the combination of motor weakness, sensory loss and foot deformity in CMT significantly elevates falls risk. Balance training — progressive challenges to static and dynamic balance in safe, supported environments — maintains the postural control strategies that compensate for the peripheral sensory deficit. Our Balance and Bones exercise classes provide a structured group environment for progressive balance and strength training relevant to CMT and other neurological conditions.
Gait retraining and orthotic advice — foot drop is one of the most functionally significant CMT impairments and one of the most amenable to orthotic management. Ankle foot orthoses (AFOs) correct foot drop during walking, significantly improving walking safety and efficiency and reducing the energy cost of walking. Our physiotherapists assess gait and provide specific orthotic recommendations and referral to orthotists where indicated. Walking aids, footwear advice and home environment modifications are also assessed where needed.
Clinical Pilates — provides a controlled, progressive environment for strength, balance and movement quality work that is particularly well suited to neurological conditions including CMT. The reformer's spring resistance system allows precise loading at levels appropriate to the individual's current capacity and can be adjusted as strength changes over time.
Pain management — neuropathic pain, muscle cramps and fatigue are common CMT symptoms that physiotherapy can address through manual therapy, heat therapy, gentle exercise and education about symptom management strategies.
What to expect at Articulate
At Articulate Physiotherapy in Tarragindi we take a genuinely long-term approach to CMT management — understanding that this is a lifelong condition requiring ongoing physiotherapy support rather than a discrete episode of treatment. We work collaboratively with your neurologist, orthotist and other treating practitioners to ensure a coordinated approach.
Our specialist experience in neurological conditions and peripheral neuropathies — alongside our exercise physiology and clinical Pilates capabilities — means we can address the full spectrum of CMT's physical consequences under one roof. We also have specific expertise in hypermobility and connective tissue conditions through Yulia Khasyanova, whose understanding of complex neurological and connective tissue presentations is relevant to the atypical CMT presentations that can overlap with other inherited conditions.
For more information about CMT, the CMT Association of Australia is a valuable resource for patients and families navigating a new diagnosis.
Our physiotherapists Mauricio Bara, Yulia Khasyanova and Eliane Machado are all members of the Australian Physiotherapy Association and experienced in neurological condition management.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
