Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Distal upper limb muscle weakness
Very frequent (80-99%)HP:0008959
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Inability to heel walk
Very frequent (80-99%)HP:0009027
Intrinsic hand muscle atrophy
Very frequent (80-99%)HP:0008954
Myopathy
Very frequent (80-99%)HP:0003198
Weakness of long finger extensor muscles
Very frequent (80-99%)HP:0009077
Clumsiness
Frequent (30-79%)HP:0002312
Distal upper limb amyotrophy
Frequent (30-79%)HP:0007149
Gait disturbance
Frequent (30-79%)HP:0001288
Mildly elevated creatine kinase
Frequent (30-79%)HP:0008180
Rimmed vacuoles
Frequent (30-79%)HP:0003805
Steppage gait
Frequent (30-79%)HP:0003376
Distal limb muscle weakness due to peripheral neuropathy
HP:0002460
Distal muscle atrophy, upper and lower limbs
HP:0003693
Related Conditions
Distal muscular dystrophy with juvenile onset(child)
Benign congenital muscular dystrophy with finger flexion contractures(child)
Distal muscular dystrophy, Miyoshi type(child)
Distal myopathy with vocal cord weakness(child)
Tibial muscular dystrophy(child)
Distal myopathy Welander type(child)
Distal myopathy with posterior leg and anterior hand involvement(child)
Finnish upper limb onset distal myopathy(child)
KLHL9-related early-onset distal myopathy(child)
Oculopharyngeal distal myopathy(child)
Distal myopathy type 1(child)
Adult-onset distal myopathy due to VCP (valosin containing protein) mutation(child)
Distal myopathy with anterior tibial onset(child)
Distal nebulin myopathy(child)
Miyoshi muscular dystrophy type 3(child)
ADSSL1-related distal myopathy(child)
Progressive scapulohumeroperoneal distal myopathy(child)
Autosomal hereditary disorder(parent)
Muscular dystrophy not predominantly limb girdle in distribution(parent)
Hereditary progressive muscular dystrophy(parent)
Quick Facts
- SNOMED CT
- 58795000
- UMLS CUI
- C0221054
- Fully Specified Name
- Distal muscular dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.