/X-linked distal spinal muscular atrophy type 3

X-linked distal spinal muscular atrophy type 3

Rare Disease

MONDO:0010338

Also Known As

ATP7A spinal muscular atrophyATP7A-related distal motor neuropathyDSMAXSMAX3X-linked dHMN type 3X-linked dHMN3X-linked dSMA type 3X-linked dSMA3X-linked distal hereditary motor neuropathy type 3spinal muscular atrophy caused by mutation in ATP7Aspinal muscular atrophy, distal, X-linked 3, X-linked recessivespinal muscular atrophy, distal, X-linked type 3Dsmaxspinal muscular atrophy, distal, X-linked 3spinal muscular atrophy, distal, X-linked recessive

Definition

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.