MYH7-related skeletal myopathy
Findings
No curated finding names MYH7-related skeletal myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
Definition from the Mondo Disease Ontology (MONDO:0008050), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Distal lower limb muscle weaknessHPOHP:0009053
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Left atrial enlargementHPOHP:0031295
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 1 reported patient
- Tibialis anterior muscle atrophyHPOHP:0011399
- 1 of 1 reported patient
- Tip-toe gaitHPO
Show the remaining 15
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Minicore myopathyHPOHP:0003789
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- 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.
- MYH7HGNC:7577
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: MYH7-related skeletal myopathy
- Also called
- distal myopathy type 1Laing distal myopathyMPD1myopathy distal, type 1myopathy, distal, 1myopathy, distal, early-onset, autosomal dominantmyopathy, distal, type 1myopathy, late distal hereditary