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Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
disorderSNOMED 1187619001CUI C5569051
Overview
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect 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 copper levels
Frequent (30-79%)HP:0010836
Areflexia
Frequent (30-79%)HP:0001284
Bilateral facial weakness
Frequent (30-79%)HP:0001349
Clumsiness
Frequent (30-79%)HP:0002312
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Distal sensory loss, especially vibratory sense
Frequent (30-79%)HP:0002166
EMG: chronic denervation signs
Frequent (30-79%)HP:0003444
Eye drop
Frequent (30-79%)HP:0000508
Fallen arches
Frequent (30-79%)HP:0001763
Frequent falls
Frequent (30-79%)HP:0002359
Generalised muscle wasting
Frequent (30-79%)HP:0009055
Inability to heel walk
Frequent (30-79%)HP:0009027
Increased blood lactate
Frequent (30-79%)HP:0002151
Lower limb muscle weakness
Frequent (30-79%)HP:0007340
Muscle fasciculation
Frequent (30-79%)HP:0002380
No development of motor milestones
Frequent (30-79%)HP:0001270
Outward facing eye ball
Frequent (30-79%)HP:0000577
Peripheral motor neuropathy
Frequent (30-79%)HP:0007178
Steppage gait
Frequent (30-79%)HP:0003376
Quick Facts
- SNOMED CT
- 1187619001
- UMLS CUI
- C5569051
- Fully Specified Name
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (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.