Overview
X-linked Charcot-Marie-Tooth disease type 1 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.
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Decreased number of large and small myelinated fibres
Always present (100%)HP:0003380
Onion bulb formation
Always present (100%)HP:0003383
Weakness of outermost muscles
Always present (100%)HP:0002460
Absent Achilles reflex
Very frequent (80-99%)HP:0003438
Absent tendon reflexes
Very frequent (80-99%)HP:0001284
Distal upper limb amyotrophy
Very frequent (80-99%)HP:0007149
Lower limb muscle hypotrophy
Very frequent (80-99%)HP:0008944
Nerve conduction abnormalities
Very frequent (80-99%)HP:0040129
Pes cavus
Very frequent (80-99%)HP:0001761
Sensory neuropathy
Very frequent (80-99%)HP:0000763
Achilles tendon contracture
Frequent (30-79%)HP:0001771
Delayed motor milestones
Frequent (30-79%)HP:0001270
Distal muscle weakness in lower limbs
Frequent (30-79%)HP:0009053
Frequent falls
Frequent (30-79%)HP:0002359
Impaired pain sensation
Frequent (30-79%)HP:0007328
Loss of distal sensation
Frequent (30-79%)HP:0002936
tremors in hands
Frequent (30-79%)HP:0002378
Walking on tiptoes
Frequent (30-79%)HP:0030051
Abnormal finger chase test
Occasional (5-29%)HP:0001310
Ataxia
Occasional (5-29%)HP:0001251
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Excessive daytime somnolence
Occasional (5-29%)HP:0001262
Extensor plantar responses
Occasional (5-29%)HP:0003487
Gait disturbance
Occasional (5-29%)HP:0001288
Hand muscle weakness
Occasional (5-29%)HP:0030237
Hunched back
Occasional (5-29%)HP:0002808
Hypoacusis
Occasional (5-29%)HP:0000365
Incoordination
Occasional (5-29%)HP:0002311
Infratentorial atrophy
Occasional (5-29%)HP:0001272
Quick Facts
- SNOMED CT
- 763455008
- UMLS CUI
- C0393808
- Fully Specified Name
- X-linked Charcot-Marie-Tooth disease type 1 (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.