progressive scapulohumeroperoneal distal myopathy
MONDO:0014800Mondo
Findings
No curated finding names progressive scapulohumeroperoneal distal myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased connective tissueHPOHP:0009025
- 1 of 1 reported patient
- Neck flexor weaknessHPOHP:0003722
- 12 of 12 reported patients
- Wrist dropHPOHP:0031189
- 10 of 11 reported patients
- Scapular wingingHPOHP:0003691
- 9 of 11 reported patients
- Nemaline bodiesHPOHP:0003798
- 0 of 5 reported patients
- ScoliosisHPOHP:0002650
- 0 of 5 reported patients
- Achilles tendon contractureHPOHP:0001771
- AreflexiaHPOHP:0001284
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- Diminished deep tendon reflexHPOHP:0001315
- Facial palsyHPOHP:0010628
- Foot dorsiflexor weaknessHPOHP:0009027
Show the remaining 5
- Hand muscle atrophyHPOHP:0009130
- HyporeflexiaHPOHP:0001265
- Increased variability in muscle fiber diameterHPOHP:0003557
- Progressive muscle weaknessHPOHP:0003323
- Skeletal muscle atrophyHPOHP:0003202
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.
- ACTA1HGNC:129
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: progressive scapulohumeroperoneal distal myopathy
- Also called
- myopathy, scapulohumeroperoneal