X-linked distal spinal muscular atrophy 3

Term ID

DOID:0111196

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

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. (2)

References

• MESH:C564506
• OMIM:300489
• ORDO:139557
• SNOMEDCT_US_2023_03_01:766764008
• UMLS_CUI:C1845359

Ontology

Human Disease   ( DOID:0111196 )