Overview
Muscle filaminopathy 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.
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Mildly elevated creatine kinase
Very frequent (80-99%)HP:0008180
Proximal muscle weakness in lower limbs
Very frequent (80-99%)HP:0008994
Back pain
Frequent (30-79%)HP:0003418
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Gait disturbance
Frequent (30-79%)HP:0001288
Muscle fiber splitting
Frequent (30-79%)HP:0003555
Respiratory insufficiency
Frequent (30-79%)HP:0002093
Abnormal nerve conduction study
Occasional (5-29%)HP:0030177
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Fatty replacement of skeletal muscle
Occasional (5-29%)HP:0012548
Joint contracture
Occasional (5-29%)HP:0034392
Left ventricular diastolic dysfunction
Occasional (5-29%)HP:0025168
Left ventricular wall hypertrophy
Occasional (5-29%)HP:0001712
Neuropathy
Occasional (5-29%)HP:0009830
Right bundle-branch block
Occasional (5-29%)HP:0011712
Scapular weakness
Occasional (5-29%)HP:0003691
Weakness of face
Occasional (5-29%)HP:0030319
Abnormality of masticatory muscle
Very rare (1-4%)HP:0410011
Extremely elevated serum CK level
Very rare (1-4%)HP:0030235
Muscle pain
Very rare (1-4%)HP:0003326
Neck flexion weakness
Very rare (1-4%)HP:0003722
Quick Facts
- SNOMED CT
- 764992006
- UMLS CUI
- C4707258
- Fully Specified Name
- Muscle filaminopathy (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.