myopathy, myofibrillar, 9, with early respiratory failure
MONDO:0011362Mondo
Findings
No curated finding names myopathy, myofibrillar, 9, with early respiratory failure yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
32 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.
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Adult onset
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- Frequent (30% to 79% of cases)
- Limited hip movementHPOHP:0008800
- Frequent (30% to 79% of cases)
- Muscle fiber splittingHPOHP:0003555
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Adult onset
- Frequent (30% to 79% of cases)
- Necrotizing myopathyHPOHP:0008978
- Frequent (30% to 79% of cases)
- OrthopneaHPOHP:0012764
- Frequent (30% to 79% of cases)
Show the remaining 20
- Reduced vital capacityHPOHP:0002792
- Frequent (30% to 79% of cases)
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- Frequent (30% to 79% of cases)
- Restrictive ventilatory defectHPOHP:0002091
- Frequent (30% to 79% of cases)
- Rimmed vacuolesHPOHP:0003805
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Type 1 muscle fiber predominanceHPOHP:0003803
- Frequent (30% to 79% of cases)
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.
- TTNHGNC:12403
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
12 names
Resolves to: myopathy, myofibrillar, 9, with early respiratory failure
- Also called
- ADMERFdistal myopathy with early respiratory muscle involvementEdstrom myopathyEdström myopathyhereditary inclusion body myopathy with early respiratory failurehereditary proximal myopathy with early respiratory failureHIBM-ERFHMERFHMERF-ERFmyofibrillar myopathy with early respiratory failuremyopathy, distal, with early respiratory failure, autosomal dominantmyopathy, proximal, with early respiratory muscle involvement