myosclerosis
Findings
No curated finding names myosclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
Definition from the Mondo Disease Ontology (MONDO:0009714), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
12 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
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Facial palsyHPOHP:0010628
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- Lumbar hyperlordosisHPOHP:0002938
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.
- COL6A2HGNC:2212
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: myosclerosis
- Also called
- congenital myosclerosis, LC6wenthal typecongenital myosclerosis, Löwenthal typemyosclerosis, congenital