Charcot-Marie-Tooth Disease

• Charcot-Marie-Tooth disease is an inherited disease that affects the peripheral motor and sensory neurons.
• Charcot-Marie-Tooth disease is also known as hereditary motor and sensory neuropathy.
• There are various types of Charcot-Marie-Tooth disease, with different genetic mutations and pathophysiology, causing myelin or axon dysfunction.
• The majority of mutations in Charcot-Marie-Tooth disease are inherited in an autosomal dominant pattern.
• Symptoms of Charcot-Marie-Tooth disease usually start to appear before the age of 10 but can be delayed until 40 or later.
• There are some classical features of Charcot-Marie-Tooth disease.
• Reduced tendon reflexes are a feature of Charcot-Marie-Tooth disease.
• High foot arches (pes cavus) are a feature of Charcot-Marie-Tooth disease.
• Reduced muscle tone is a feature of Charcot-Marie-Tooth disease.
• Lower leg weakness, particularly loss of ankle dorsiflexion, is a feature of Charcot-Marie-Tooth disease.
• Other causes of peripheral neuropathy can be remembered with the ABCDE mnemonic: A - Alcohol, B - B12 deficiency, C - Cancer (e.g., myeloma) and Chronic kidney disease, D - Diabetes and Drugs (e.g., isoniazid, amiodarone, leflunomide and cisplatin), E - Ever vasculitis.
• Weakness in the hands is a feature of Charcot-Marie-Tooth disease.
• Management of Charcot-Marie-Tooth disease is supportive, with input from various members of the multidisciplinary team: Neurologists and geneticists to make the diagnosis, Physiotherapists to maintain muscle strength and joint range of motion, Occupational therapists to assist with activities of living, Podiatrists to help with foot symptoms and suggest insoles and other orthoses to improve symptoms, Analgesia for neuropathic pain (e.g., amitriptyline), Orthopaedic surgeons for severe joint deformities.
• Peripheral neuropathy is a characteristic feature of Charcot-Marie-Tooth disease.
• Peripheral sensory loss is a feature of Charcot-Marie-Tooth disease.
• There is no cure or treatment to prevent Charcot-Marie-Tooth disease from progressing.
• Distal muscle wasting causes "inverted champagne bottle legs" in Charcot-Marie-Tooth disease.
• Peripheral neuropathy refers to reduced sensory and motor function in the peripheral nerves, typically affecting the feet and hands (“stocking-glove” distribution).