Charcot-Marie-Tooth disease dominant intermediate B

Charcot-Marie-Tooth disease dominant intermediate B is a rare hereditary condition that affects the nerves controlling movement and sensation. It is classified as an autosomal dominant motor and sensory neuropathy with features that are usually mild to moderately severe and slowly progressive. The disease involves both findings of nerve damage due to loss of the myelin sheath (demyelination) and direct nerve cell damage (axonal degeneration). People with this condition experience gradual muscle weakness and muscle wasting in the feet and hands, as well as sensory loss in the distal parts of the body. Other clinical signs may include abnormal foot shape, reduced or absent tendon reflexes, asymptomatic low levels of neutrophils, and early-onset cataracts.

Common symptoms include muscle weakness and atrophy, especially in the distal parts of the limbs, distal sensory loss, decreased or absent deep tendon reflexes, and foot deformities. Some people also have asymptomatic neutropenia and may develop early-onset cataracts.

This condition is caused by a mutation in the DNM2 gene and is inherited in an autosomal dominant manner. This means that a change in just one copy of the gene can lead to the condition.

Information about treatment is currently limited for this condition.

The condition is generally slowly progressive and may vary in severity. Many people experience gradual changes over time, and supportive care is often used to manage symptoms and maintain quality of life. Information about long-term outcomes and detailed prognosis is limited.

Information about research is currently limited for this condition.