X-linked distal spinal muscular atrophy type 3
X-linked distal spinal muscular atrophy type 3
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.
Also known as ATP7A spinal muscular atrophy, ATP7A-related distal motor neuropathy, DSMAX, SMAX3, spinal muscular atrophy caused by mutation in ATP7A, spinal muscular atrophy, distal, X-linked 3, X-linked recessive, spinal muscular atrophy, distal, X-linked type 3, X-linked dHMN type 3, X-linked dHMN3, X-linked distal hereditary motor neuropathy type 3, X-linked dSMA type 3, X-linked dSMA3 — per MONDO