Charcot-Marie-Tooth disease dominant intermediate C

Charcot-Marie-Tooth disease dominant intermediate C is a rare inherited disorder that affects the nerves controlling movement and sensation in the arms and legs. It follows an autosomal dominant pattern, meaning that a change in just one copy of the gene can cause the disease. The condition is characterized by nerve conduction velocities that are slower than normal but not as slow as in some other forms of the disease. People with this condition usually experience a slowly progressive loss of muscle strength and wasting in the distal (far) parts of the limbs, as well as changes in sensation in the hands and feet. There are also associated features such as reduced or absent deep tendon reflexes and foot deformities. Nerve studies and biopsies have shown a pattern of nerve fiber loss and remyelination.

Common symptoms of this condition include muscle weakness and atrophy in the distal parts of the arms and legs, loss of sensation in these areas, and reduced or absent deep tendon reflexes. Foot deformities and atrophy of the extensor digitorum brevis muscle are also seen.

This condition is caused by genetic mutations, particularly in the YARS1 gene, and follows an autosomal dominant inheritance pattern. This means that a change in one copy of the gene is enough to cause the disease.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions for this condition is currently limited.