Charcot-Marie-Tooth disease dominant intermediate D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare genetic disorder that affects the nerves. It is characterized by both motor and sensory problems in the nerves, which lead to muscle weakness, loss of sensation in the limbs, and foot deformities. The disease shows signs of both axonal degeneration (damage to the nerve fibers) and demyelination (damage to the protective covering of nerves). People with this condition may experience additional issues such as neuropathic pain and a mild tremor in the upper limbs. The condition is identified by specific nerve conduction measurements, with speeds typically ranging between 25 and 45 m/s, and by findings from nerve biopsies that do not show the characteristic onion bulbs seen in some other neuropathies.

Common signs include progressive muscle weakness and atrophy, primarily in the distal parts of the limbs, and loss of sensation in the hands and feet. Reduced or absent deep tendon reflexes and foot deformities are frequently observed. In some families, debilitating nerve pain and a mild postural or kinetic tremor in the upper limbs have also been noted.

This condition is caused by mutations in the MPZ gene and follows an autosomal dominant pattern of inheritance. This means that a mutation in just one copy of the gene can lead to the disorder. The genetic mutation affects the normal functioning of the nerve fibers, leading to both axonal degeneration and demyelination observed in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.