myofibrillar myopathy 1
Findings
No curated finding names myofibrillar myopathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
Definition from the Mondo Disease Ontology (MONDO:0011076), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Adult 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.
- Axial muscle weaknessHPOHP:0003327
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Progressive muscle weaknessHPOHP:0003323
- Very frequent (80% to 99% of cases)
- Atrioventricular blockHPOHP:0001678
- Frequent (30% to 79% of cases)
- Concentric hypertrophic cardiomyopathyHPOHP:0005157
- Frequent (30% to 79% of cases)
- Congestive heart failure
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.
- DESHGNC:2770
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal dominant · 2022
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
9 names
Resolves to: myofibrillar myopathy 1
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in DESautosomal recessive limb-girdle muscular dystrophy type 2RDES autosomal recessive limb-girdle muscular dystrophyDES myofibrillar myopathy (disease)desmin-related myofibrillar myopathydesminopathymyofibrillar myopathy (disease) caused by mutation in DESmyofibrillar myopathy type 1myopathy, myofibrillar, type 1