X-linked scapuloperoneal muscular dystrophy
Findings
No curated finding names X-linked scapuloperoneal muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.
Definition from the Mondo Disease Ontology (MONDO:0010400), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 8 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 13 of 13 reported patients
- HyporeflexiaHPOHP:0001265
- 8 of 10 reported patients
- Forearm supination contractureHPOHP:0034394
- 2 of 14 reported patients
- Achilles tendon contractureHPOHP:0001771
- 1 of 14 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 1 of 14 reported patients
- Knee flexion contracture
Show the remaining 3
- Skeletal muscle atrophyHPOHP:0003202
- Steppage gaitHPOHP:0003376
- Waddling gaitHPOHP:0002515
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.
- FHL1HGNC:3702
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: X-linked scapuloperoneal muscular dystrophy
- Also called
- scapuloperoneal myopathy, X-linked dominant, X-linked dominantX-linked scapuloperoneal syndromeX-linked SPMD