Overview
Miyoshi muscular dystrophy type 3 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Progressive muscle weakness
Very frequent (80-99%)HP:0003323
Difficulty running
Frequent (30-79%)HP:0009046
Gait disturbance
Frequent (30-79%)HP:0001288
Highly elevated serum CPK
Frequent (30-79%)HP:0030234
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Muscle stiffness
Frequent (30-79%)HP:0003552
Quadriceps weakness
Frequent (30-79%)HP:0003731
Waddling gait
Frequent (30-79%)HP:0002515
Wasting of quad muscles
Frequent (30-79%)HP:0009050
Calf muscle pseudohypertrophy
Occasional (5-29%)HP:0003707
Distal muscle atrophy, upper and lower limbs
Occasional (5-29%)HP:0003693
Muscle weakness, progressive, proximal
Occasional (5-29%)HP:0009073
Proximal muscle weakness in upper limbs
Occasional (5-29%)HP:0008997
Breakdown of skeletal muscle
Very rare (1-4%)HP:0003201
Difficulty walking up stairs
HP:0003551
Distal upper limb muscle weakness
Excluded (<1%)HP:0008959
Muscle biopsy shows dystrophic changes
HP:0003560
Quick Facts
- SNOMED CT
- 783166000
- UMLS CUI
- C2750076
- Fully Specified Name
- Distal anoctaminopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.