Overview
Proximal myopathy with extrapyramidal signs 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.
Abnormal basal ganglia MRI signal intensity
Frequent (30-79%)HP:0012751
Central core regions in muscle fibres
Frequent (30-79%)HP:0030230
Central nuclei
Frequent (30-79%)HP:0003687
Choreatic disease
Frequent (30-79%)HP:0002072
Difficulty running
Frequent (30-79%)HP:0009046
Dystonic movements
Frequent (30-79%)HP:0001332
Gait disturbance
Frequent (30-79%)HP:0001288
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Involuntary movements
Frequent (30-79%)HP:0004305
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Progressive extrapyramidal movement disorder
Frequent (30-79%)HP:0007153
Progressive extrapyramidal muscular rigidity
Frequent (30-79%)HP:0007158
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Tremor at rest
Frequent (30-79%)HP:0002322
Ataxia
Occasional (5-29%)HP:0001251
Axonal neuropathy
Occasional (5-29%)HP:0003477
Decreased size of cranium
Occasional (5-29%)HP:0000252
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Eyelid ptosis
Occasional (5-29%)HP:0000508
Mildly elevated creatine kinase
Occasional (5-29%)HP:0008180
Optic atrophy
Occasional (5-29%)HP:0000648
Quick Facts
- SNOMED CT
- 770722002
- UMLS CUI
- C4749430
- Fully Specified Name
- Proximal myopathy with extrapyramidal signs (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.