Conditions / Musculoskeletal

Charcot-Marie-Tooth disease type 2A2B

info · Musculoskeletal

A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.

Signs and symptoms

Decreased number of large peripheral myelinated nerve fibers
Gait disturbance
Lower limb amyotrophy
Distal sensory impairment
Proximal muscle weakness
Upper limb amyotrophy
Hearing impairment
Talipes equinovarus
Abnormally high-pitched voice
Hyporeflexia

Also known as: AR-CMT2, Ouvrier type; CMT2A2B; Charcot-Marie-Tooth disease, axonal, type 2A2B; SEOAN due to MFN2 deficiency; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type