Charcot-Marie-Tooth disease dominant intermediate F

Rare Disease

MONDO:0014074

Also Known As

CMTDIFCharcot-Marie-Tooth disease dominant intermediate type FCharcot-Marie-Tooth disease, dominant Intermediate type Fautosomal dominant intermediate Charcot-Marie-Tooth disease type FCharcot-Marie-Tooth disease, dominant intermediate FDI-CMTFGNB4-related intermediate Charcot-Marie-Tooth neuropathy

Definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.