Miyoshi muscular dystrophy 3
MONDO:0013222Mondo
Findings
No curated finding names Miyoshi muscular dystrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
19 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
- 12 of 12 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 7 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Progressive muscle weaknessHPOHP:0003323
- Very frequent (80% to 99% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Highly elevated creatine kinaseHPOHP:0030234
- Frequent (30% to 79% of cases)
- Muscle stiffnessHPOHP:0003552
- Frequent (30% to 79% of cases)
- Waddling gaitHPOHP:0002515
- Frequent (30% to 79% of cases)
- Quadriceps muscle atrophyHPOHP:0009050
- 7 of 12 reported patients
- Quadriceps muscle weaknessHPOHP:0003731
- 5 of 12 reported patients
- Calf muscle pseudohypertrophyHPOHP:0003707
- Occasional (5% to 29% of cases)
- Distal amyotrophyHPOHP:0003693
- Occasional (5% to 29% of cases)
Reported absent (1)
- Peroneal muscle atrophyHPOHP:0009049
Show the remaining 7
- Progressive proximal muscle weaknessHPOHP:0009073
- Occasional (5% to 29% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Occasional (5% to 29% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- 4 of 12 reported patients
- RhabdomyolysisHPOHP:0003201
- Very rare (1% to 4% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- 0 of 12 reported patients
- Difficulty climbing stairsHPOHP:0003551
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.
- ANO5HGNC:27337
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: Miyoshi muscular dystrophy 3
- Also called
- distal anoctaminopathyMiyoshi muscular dystrophy type 3MMD3