myofibrillar myopathy 6
Findings
No curated finding names myofibrillar myopathy 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
Definition from the Mondo Disease Ontology (MONDO:0013061), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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
- 3 of 3 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 3 of 3 reported patients
- Restrictive cardiomyopathyHPOHP:0001723
- 2 of 3 reported patients
- Spinal rigidityHPOHP:0003306
- 2 of 3 reported patients
- Axial muscle weaknessHPOHP:0003327
- 1 of 3 reported patients
- Demyelinating peripheral neuropathyHPO
Show the remaining 11
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 3 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 3 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 3 reported patients
- Pes valgusHPOHP:0008081
- 1 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 3 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 1 of 3 reported patients
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.
- BAG3HGNC:939
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: myofibrillar myopathy 6
- Also called
- BAG3 myofibrillar myopathy (disease)myofibrillar myopathy (disease) caused by mutation in BAG3myofibrillar myopathy type 6myopathy, myofibrillar, type 6