X-linked distal spinal muscular atrophy 3 (DOID:0111196)
Alliance: disease page
Synonyms: ATP7A-related distal motor neuropathy; DSMAX; SMAX3; X-linked dHMN3; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked recessive distal spinal muscular atrophy
Alt IDs: OMIM:300489, MESH:C564506, ORDO:139557, UMLS_CUI:C1845359
Definition: 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.