/Charcot-Marie-Tooth disease X-linked recessive 2

Charcot-Marie-Tooth disease X-linked recessive 2

Rare Disease

MONDO:0010550

Also Known As

CMTX 2CMTX2Charcot Marie Tooth disease X-linked recessive 2Charcot-Marie-Tooth disease X-linked recessive type 2Charcot-Marie-Tooth disease, X-linked recessive, 2Charcot-Marie-Tooth neuropathy X-linked recessive 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessiveX-linked Charcot-Marie-Tooth disease type 2

Definition

X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.