Miyoshi myopathy
Findings
No curated finding names Miyoshi myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
Definition from the Mondo Disease Ontology (MONDO:0009685), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Difficulty standingHPOHP:0003698
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Distal upper limb amyotrophyHPOHP:0007149
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Pelvic girdle muscle weaknessHPOHP:0003749
- Frequent (30% to 79% of cases)
- Proximal amyotrophyHPOHP:0007126
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Frequent (30% to 79% of cases)
- Shoulder girdle muscle weaknessHPOHP:0003547
- Frequent (30% to 79% of cases)
Reported absent (4)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Intrinsic hand muscle atrophyHPOHP:0008954
- Muscle stiffnessHPOHP:0003552
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
Show the remaining 9
- Tibialis anterior muscle atrophyHPOHP:0011399
- Frequent (30% to 79% of cases)
- Tibialis muscle weaknessHPOHP:0008963
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Occasional (5% to 29% of cases)
- Decreased/absent ankle reflexesHPOHP:0200101
- Occasional (5% to 29% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Occasional (5% to 29% of cases)
- Loss of ambulationHPOHP:0002505
- Occasional (5% to 29% 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.
- DYSFHGNC:3097
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Miyoshi myopathy
- Also called
- Miyoshi distal myopathyMiyoshi muscular dystrophyMM