myopathy, myofibrillar, 13, with rimmed vacuoles
Findings
No curated finding names myopathy, myofibrillar, 13, with rimmed vacuoles yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
Definition from the Mondo Disease Ontology (MONDO:0976133), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
70 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.
- Abnormality of the cardiovascular systemHPOHP:0001626
- 1 of 1 reported patient
- Absent Achilles reflexHPOHP:0003438
- 2 of 2 reported patients
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 2 of 2 reported patients
- AtelectasisHPOHP:0100750
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.
- HSPB8HGNC:30171
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: myopathy, myofibrillar, 13, with rimmed vacuoles
- Also called
- autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndromeHSPB8-associated autosomal dominant rimmed vacuolar myopathyHSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndromelimb-girdle rimmed vacuolar myopathyMFM13rimmed vacuoles myopathy