Overview
Proximal myotonic myopathy 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.
Decreased serum IgG
Always present (100%)HP:0004315
Grip myotonia
Always present (100%)HP:0012899
Hyporeflexia
Always present (100%)HP:0001265
Muscle atrophy, generalised
Always present (100%)HP:0003700
Periventricular white matter hyperintensities
Always present (100%)HP:0030891
Right bundle-branch block
Always present (100%)HP:0011712
Skipped heartbeat
Always present (100%)HP:0006682
Sternocleidomastoid amyotrophy
Always present (100%)HP:0012036
Axial muscle weakness
Very frequent (80-99%)HP:0003327
Cataract
Very frequent (80-99%)HP:0000518
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Muscle atrophy, neurogenic
Very frequent (80-99%)HP:0003202
Muscle pain
Very frequent (80-99%)HP:0003326
Proximal neurogenic muscle weakness
Very frequent (80-99%)HP:0003701
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Deglutition disorder
Frequent (30-79%)HP:0002015
Dyschezia
Frequent (30-79%)HP:0002019
Gastro pain
Frequent (30-79%)HP:0002027
Insulin insensitivity
Frequent (30-79%)HP:0008189
Muscle stiffness
Frequent (30-79%)HP:0003552
NIDDM
Frequent (30-79%)HP:0005978
Posterior subcapsular cataracts
Frequent (30-79%)HP:0007787
Sensorineural deafness
Frequent (30-79%)HP:0000407
Abnormal thyroid function
Occasional (5-29%)HP:0002926
Abnormality of cardiac conduction system
Occasional (5-29%)HP:0031546
Brisk deep tendon reflexes
Occasional (5-29%)HP:0001348
Decreased function of male gonad
Occasional (5-29%)HP:0000026
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Ekbom syndrome
Occasional (5-29%)HP:0012452
Excessive daytime somnolence
Occasional (5-29%)HP:0001262
Related Conditions
Quick Facts
- SNOMED CT
- 715317001
- UMLS CUI
- C2931689
- Fully Specified Name
- Proximal myotonic myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.