Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal calf muscles
Frequent (30-79%)HP:0001430
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Abnormality of pharynx musculature
Frequent (30-79%)HP:0430015
Amyotrophic lateral sclerosis
Frequent (30-79%)HP:0007354
Ankle weakness
Frequent (30-79%)HP:0031374
Aspiration
Frequent (30-79%)HP:0002835
Bowing of the vocal cords
Frequent (30-79%)HP:0008756
Bulbar palsies
Frequent (30-79%)HP:0001283
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Gait disturbance
Frequent (30-79%)HP:0001288
Husky voice
Frequent (30-79%)HP:0001609
Hypernasal voice
Frequent (30-79%)HP:0001611
Hypophonia
Frequent (30-79%)HP:0001621
Imperfect vocal cord adduction
Frequent (30-79%)HP:0005934
Increased reflexes
Frequent (30-79%)HP:0001347
Mildly elevated creatine kinase
Frequent (30-79%)HP:0008180
Muscle pain with exercise
Frequent (30-79%)HP:0003738
Respiratory failure due to muscle weakness
Frequent (30-79%)HP:0002747
Rimmed vacuoles
Frequent (30-79%)HP:0003805
Unsteady walk
Frequent (30-79%)HP:0002317
Vocal cord paresis
Frequent (30-79%)HP:0001604
Abnormality of the extraocular muscles
Occasional (5-29%)HP:0008049
Distal upper limb amyotrophy
Occasional (5-29%)HP:0007149
Shoulder weakness
Occasional (5-29%)HP:0003547
Decreased nerve conduction velocity
Very rare (1-4%)HP:0000762
Loss of distal sensation
Very rare (1-4%)HP:0002936
Progressive dementia
Very rare (1-4%)HP:0000726
Quick Facts
- SNOMED CT
- 702383005
- UMLS CUI
- C1853723
- Fully Specified Name
- Distal myopathy 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.