Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4E is a congenital form of the Charcot-Marie-Tooth disease group. It is characterized by a hypomyelinating neuropathy that presents with a Dejerine-Sottas syndrome-like picture. In infancy, children may show signs like low muscle tone (hypotonia) and delayed motor development. As people with this condition grow, they can experience symptoms typical of Charcot-Marie-Tooth diseases, including weakness and wasting of the muscles in the hands and feet, sensory loss, and foot deformities. Additionally, some people may have very slow nerve conduction, respiratory issues, or involvement of the cranial nerves.

Common features in people with this condition include delayed motor development and hypotonia in infancy. As the condition progresses, there is often distal muscle weakness and atrophy, loss of sensation, foot deformities, extremely slow nerve conduction, potential respiratory difficulties, and cranial nerve involvement.

Charcot-Marie-Tooth disease type 4E is caused by genetic changes, and mutations in the EGR2 gene have been associated with this condition. This gene plays a role in the development and maintenance of the myelin sheath that surrounds nerves.

Information about treatment options and management is currently limited for this condition.

Information about prognosis and long‐term outlook is currently limited for this condition.

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