Overview
X-linked myopathy with excessive autophagy 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.
Proximal lower limb muscle atrophy
Always present (100%)HP:0008956
Proximal muscle weakness in lower limbs
Always present (100%)HP:0008994
Skeletal muscle autophagosome accumulation
Always present (100%)HP:0025717
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Delayed motor milestones
Occasional (5-29%)HP:0001270
Flexion contractures
Occasional (5-29%)HP:0001371
Hypotonia, in neonatal onset
Occasional (5-29%)HP:0001319
Limited extraocular movements
Occasional (5-29%)HP:0007941
Respiratory insufficiency
Occasional (5-29%)HP:0002093
Abnormality of the cardiovascular system
Excluded (<1%)HP:0001626
Delayed relaxation of muscle fibres after contraction
HP:0002486
Difficulty running
HP:0009046
Difficulty walking up stairs
HP:0003551
Elevated circulating creatine phosphokinase
HP:0003236
Gowers sign
HP:0003391
Muscle fibre necrosis
Excluded (<1%)HP:0003713
Myopathy
HP:0003198
Neurogenic muscle atrophy, especially in the lower limbs
HP:0003202
Nonprogressive mental retardation
Excluded (<1%)HP:0001249
Quick Facts
- SNOMED CT
- 719815005
- UMLS CUI
- C1839615
- Fully Specified Name
- X-linked myopathy with excessive autophagy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.