Understanding the disorder and its importance
Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies that affect the peripheral nerves causing progressive muscle weakness and atrophy, primarily in the distal limbs. It is one of the most common inherited neurological disorders. Understanding CMT is crucial because it is a progressive condition that can significantly impact mobility, independence and quality of life. Early diagnosis and appropriate management can help prevent complications, optimise function and improve long-term outcomes. Additionally, as CMT is genetic, understanding the condition is important for family planning and genetic counselling.
Signs and symptoms
The signs and symptoms of CMT typically begin in childhood or adolescence, though onset can vary. Common early signs include muscle weakness and atrophy in the feet and lower legs, leading to foot deformities such as high arches (pes cavus) or hammertoes. Children may experience frequent tripping, ankle sprains or difficulty with activities like running or climbing stairs. As the disease progresses, weakness may extend to the hands and forearms. Sensory loss in the extremities is common, which can lead to decreased pain sensation and proprioception. Some individuals develop scoliosis or hip dysplasia. In more severe forms, respiratory muscle weakness may occur. The progression and severity of symptoms can vary widely between individuals, even within the same family.
When to seek neurological assessment
Neurological assessment should be sought if a child shows signs of progressive muscle weakness, particularly in the feet and lower legs. Frequent tripping, clumsiness or difficulty with fine motor tasks that seems to worsen over time should prompt evaluation. The development of foot deformities, especially in the context of family history of similar issues, is another key indicator. Any unexplained sensory changes in the extremities or signs of muscle atrophy should also lead to neurological consultation. Early assessment is important, as it can help guide appropriate interventions and prevent secondary complications.
Investigation and treatment strategies
Diagnosis of CMT typically involves a combination of clinical examination, electrophysiological studies and genetic testing. A detailed family history and neurological examination are crucial first steps. Nerve conduction studies and electromyography (EMG) can help characterise the type and severity of nerve involvement. Genetic testing is important for confirming the diagnosis and identifying the specific type of CMT, which can have implications for prognosis and management. In some cases, nerve biopsy may be considered, though this is less common with advances in genetic testing.
Treatment strategies for CMT are primarily supportive as there is currently no cure for the underlying genetic condition. Management focuses on maintaining function, preventing complications and improving quality of life. Physical therapy plays a crucial role in maintaining muscle strength, flexibility, and balance. Occupational therapy can help with fine motor skills and adaptations for daily activities. Orthotic devices such as ankle-foot orthoses (AFOs) are often prescribed to improve gait and prevent foot deformities.
In some cases, surgical interventions may be necessary to correct severe foot deformities or address issues like hip dysplasia or scoliosis. Pain management strategies may be needed for individuals experiencing neuropathic pain. Regular monitoring of respiratory function is important, particularly in more severe forms of CMT.
Genetic counselling is an important aspect of care for families affected by CMT. This can provide information about inheritance patterns and help with family planning decisions. Psychological support may also be beneficial, as living with a progressive condition can be emotionally challenging.
Research into potential treatments for CMT is ongoing, including gene therapy approaches for specific genetic subtypes. While these are not yet clinically available, staying informed about research developments can be important for families affected by CMT.
Management of CMT requires a multidisciplinary approach, often involving neurologists, geneticists, orthopaedic surgeons, physical and occupational therapists and other specialists as needed. Regular follow-up is essential to monitor disease progression and adjust management strategies accordingly. With appropriate care and support, many individuals with CMT can maintain good quality of life and remain active, despite the progressive nature of the condition.
