X-linked distal spinal muscular atrophy type 3
Findings
No curated finding names X-linked distal spinal muscular atrophy type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010338), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP7AHGNC:869
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Moderate · Ambry Genetics · X-linked · 2018
- Moderate · ClinGen · X-linked · 2026
- Moderate · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: X-linked distal spinal muscular atrophy type 3
- Also called
- ATP7A spinal muscular atrophyATP7A-related distal motor neuropathyDSMAXSMAX3spinal muscular atrophy caused by mutation in ATP7Aspinal muscular atrophy, distal, X-linked 3, X-linked recessivespinal muscular atrophy, distal, X-linked type 3X-linked dHMN type 3X-linked dHMN3X-linked distal hereditary motor neuropathy type 3X-linked dSMA type 3X-linked dSMA3