X-linked myopathy with postural muscle atrophy
Findings
No curated finding names X-linked myopathy with postural muscle atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
Definition from the Mondo Disease Ontology (MONDO:0010401), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
18 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.
- Achilles tendon contractureHPOHP:0001771
- 9 of 9 reported patients
- Back painHPOHP:0003418
- 9 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 9 of 9 reported patients
- Hamstring contracturesHPOHP:0003089
- 9 of 9 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Limited neck flexionHPO
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
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: X-linked myopathy with postural muscle atrophy
- Also called
- myopathy, X-linked, with postural muscle atrophy, X-linked recessiveXMPMA