Overview
Distal myotilinopathy 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 muscle fiber myotilin
Very frequent (80-99%)HP:0030226
Gait disturbance
Very frequent (80-99%)HP:0001288
Hip-girdle muscle weakness
Very frequent (80-99%)HP:0003749
Hyporeflexia
Very frequent (80-99%)HP:0001265
Muscle weakness, progressive, distal
Very frequent (80-99%)HP:0009063
Peripheral neuropathy
Very frequent (80-99%)HP:0009830
Proximal limb muscle weakness
Very frequent (80-99%)HP:0003701
Shoulder weakness
Very frequent (80-99%)HP:0003547
Autophagic vacuoles
Frequent (30-79%)HP:0003736
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Fatty replacement of skeletal muscle
Frequent (30-79%)HP:0012548
Hip flexor weakness
Frequent (30-79%)HP:0012515
Inability to heel walk
Frequent (30-79%)HP:0009027
Inability to walk
Frequent (30-79%)HP:0002540
Increased endomysial connective tissue
Frequent (30-79%)HP:0100297
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Limited elbow flexion
Frequent (30-79%)HP:0006376
Limited knee flexion/extension
Frequent (30-79%)HP:0005085
Loss of ability to walk in first decade
Frequent (30-79%)HP:0006794
Multiple joint contractures
Frequent (30-79%)HP:0002828
Muscle stiffness
Frequent (30-79%)HP:0003552
Nasal speech
Frequent (30-79%)HP:0001611
Standing instability
Frequent (30-79%)HP:0003698
Decreased vital capacity
Occasional (5-29%)HP:0002792
Deglutition disorder
Occasional (5-29%)HP:0002015
Quick Facts
- SNOMED CT
- 765196004
- UMLS CUI
- C4707358
- Fully Specified Name
- Distal myotilinopathy (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.