Overview
ADSSL1-related distal 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.
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Hyporeflexia of lower limbs
Always present (100%)HP:0002600
Mildly elevated creatine kinase
Always present (100%)HP:0008180
Muscle fiber splitting
Always present (100%)HP:0003555
Myopathy
Always present (100%)HP:0003198
Elevated serum creatine phosphokinase
Very frequent (80-99%)HP:0003236
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Unsteady walk
Very frequent (80-99%)HP:0002317
Amyotrophy involving the upper limbs
Frequent (30-79%)HP:0009129
Ankle contracture
Frequent (30-79%)HP:0034677
Difficulty running
Frequent (30-79%)HP:0009046
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Diminished deep tendon reflexes
Frequent (30-79%)HP:0001315
Distal muscle weakness in lower limbs
Frequent (30-79%)HP:0009053
Distal upper limb muscle weakness
Frequent (30-79%)HP:0008959
Elbow contracture
Frequent (30-79%)HP:0034391
Fatigable weakness of chewing muscles
Frequent (30-79%)HP:0030193
Inability to heel walk
Frequent (30-79%)HP:0009027
Internally nucleated skeletal muscle fibers
Frequent (30-79%)HP:0031237
Lower limb amyotrophy
Frequent (30-79%)HP:0007210
Lower limb atrophy
Frequent (30-79%)HP:0008944
Muscle atrophy, generalised
Frequent (30-79%)HP:0003700
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Quadriceps weakness
Frequent (30-79%)HP:0003731
Reduced forced vital capacity
Frequent (30-79%)HP:0032341
Restrictive respiratory disease
Frequent (30-79%)HP:0002091
Rimmed vacuoles
Frequent (30-79%)HP:0003805
Triceps weakness
Frequent (30-79%)HP:0031108
Walking on tiptoes
Frequent (30-79%)HP:0030051
Wasting of quad muscles
Frequent (30-79%)HP:0009050
Quick Facts
- SNOMED CT
- 1172694007
- UMLS CUI
- C5567521
- Fully Specified Name
- Adenylosuccinate synthetase-like 1-related distal 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.