Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B1 is a rare inherited condition that affects the peripheral nerves. It is characterized by an early childhood onset and is known for a severe, demyelinating sensorimotor neuropathy that results in weakness and sensory loss. People with this condition often show signs such as muscle atrophy and foot deformities including pes cavus. The condition also shows unique features on nerve biopsies, including complex myelin outfoldings and very slow nerve conduction. Additional signs reported include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities. This information comes from the clinical description provided for this condition.

Common signs of Charcot-Marie-Tooth disease type 4B1 include distal muscle weakness and atrophy, sensory loss, and foot deformities such as pes cavus. Some people with this condition may also experience facial weakness, vocal cord paresis, respiratory difficulties, and other skeletal deformities like claw hands or chest deformities.

This condition is caused by mutations in the MTMR2 gene. It is inherited in an autosomal recessive manner, which means a child needs to receive a copy of the mutated gene from each parent to develop 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.