distal myopathy, Tateyama type
Findings
No curated finding names distal myopathy, Tateyama type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
Definition from the Mondo Disease Ontology (MONDO:0013686), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
24 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Hand muscle weaknessHPOHP:0030237
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Increased variability in muscle fiber diameter
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.
- CAV3HGNC:1529
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of