Charcot-Marie-Tooth disease type 5

Charcot-Marie-Tooth disease type 5, also known as hereditary motor and sensory neuropathy type 5, is a rare inherited nerve disorder that affects the peripheral nerves. It is characterized by a slowly progressive weakness and wasting of the muscles in the hands and feet, which can lead to challenges with walking and mobility. In addition to muscle weakness and atrophy, some people with this condition may experience sensory loss, muscle cramps, pain, and signs of spasticity. There may also be pyramidal signs such as extensor plantar responses, a mild increase in muscle tone, and brisk tendon reflexes. These symptoms collectively may contribute to difficulties such as foot drop and high-arched feet (pes cavus).

Common symptoms include slowly progressive muscle weakness and atrophy, especially in the distal muscles, which can lead to difficulty walking and foot drop. People may also experience high-arched feet (pes cavus). Additional signs can include sensory loss, muscle cramps, pain, and spasticity. Pyramidal signs such as increased muscle tone, brisk tendon reflexes, and extensor plantar responses have also been observed in some individuals.

Charcot-Marie-Tooth disease type 5 is a hereditary condition caused by genetic changes. It is inherited in an autosomal dominant pattern, which means that a change in just one copy of the gene can cause the condition. The HMSN5 gene is known to be associated with this type of neuropathy.

Information about treatment options and management approaches is currently limited for this condition. Supportive care is often used to help manage symptoms and maintain mobility.

The condition usually progresses slowly, and many people can maintain a good quality of life with supportive care and symptom management. However, the outlook may vary among individuals, and detailed long-term prognosis information is limited.

Information about research is currently limited for this condition. Ongoing studies are expected to better understand the underlying mechanisms and develop more targeted therapies in the future.