/Charcot-Marie-Tooth disease X-linked recessive 3

Charcot-Marie-Tooth disease X-linked recessive 3

Rare Disease

MONDO:0010551

Also Known As

CMT3XCMTX 3CMTX3Charcot Marie Tooth disease X-linked recessive 3Charcot-Marie-Tooth disease X-linked recessive type 3Charcot-Marie-Tooth disease, X-linked recessive, 3Charcot-Marie-Tooth neuropathy X-linked recessive 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessiveX-linked Charcot-Marie-Tooth disease type 3

Definition

X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.