Charcot-Marie-Tooth Disease Symptoms

Charcot-Marie-Tooth disease (CMT) is one of several hereditary neuropathies, meaning inherited conditions that damage the peripheral nervous system (the network of nerves outside the brain and spinal cord). CMT affects approximately 1 in every 2,500 people, making it one of the most common inherited neurological disorders worldwide.

Common Symptoms

CMT symptoms result from damage to the nerves that control muscle movement and sensation in the arms, legs, hands, and feet. Core symptoms include:

  • Muscle weakness and muscle wasting (loss of muscle mass)
  • Foot drop (difficulty lifting the front part of the foot)
  • High-arched feet and other foot deformities (rates vary by subtype)
  • Difficulty with fine motor skills in the hands

Additional symptoms that some people with CMT experience include gastrointestinal problems, fatigue, tremor, and neuropathic pain.

Types of CMT

There are many subtypes of CMT, including CMT1A, CMT2A, and HNPP, each caused by a different genetic mutation. Genetic testing can be used to confirm a CMT diagnosis and identify which subtype a person has. Because the clinical picture varies across subtypes, symptom severity and progression differ from person to person.

Treatment and Management

There is currently no cure for CMT, but a range of treatments can help manage symptoms and support daily function. Ankle-foot orthotics (AFOs) and other braces help support the feet and legs and reduce fall risk. Physical therapy and targeted exercises can help maintain strength and mobility. Nutrition and vitamins also play roles in daily function.

HNF Resources

The Hereditary Neuropathy Foundation (HNF) funds CMT research through its Therapeutic Research in Accelerated Discovery (TRIAD) initiative and maintains the Global Registry for Inherited Neuropathies (GRIN), a global CMT patient registry. HNF also helps patients find a CMT Center of Excellence and specialist near them. These centers provide comprehensive care, including genetic testing, diagnosis, bracing, occupational therapy, physical therapy, and respiratory therapy.

If you or someone you know is living with CMT and looking for support, information, or access to specialized care, visit our What is CMT page and our patient resources.