X-linked distal spinal muscular atrophy 3

info · Genetic

A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.

Signs and symptoms

Hyporeflexia
EMG: neuropathic changes
Pes cavus
Distal amyotrophy
Abnormal peripheral nervous system morphology
Distal muscle weakness
Unsteady gait
Spinal muscular atrophy
Distal sensory impairment

Also known as: ATP7A-related distal motor neuropathy; DSMAX; SMAX3; X-linked dHMN3; X-linked dSMA3