Overview
Charcot-Marie-Tooth disease type 2B1 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.
Axonal degeneration
Very frequent (80-99%)HP:0040078
Axonal loss
Very frequent (80-99%)HP:0003447
Decreased amplitude of sensory action potentials
Very frequent (80-99%)HP:0007078
Decreased number of large and small myelinated fibres
Very frequent (80-99%)HP:0003380
Distal motor neuropathy
Very frequent (80-99%)HP:0007002
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
EMG: axonal abnormality
Very frequent (80-99%)HP:0003482
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Sensory axonal neuropathy
Very frequent (80-99%)HP:0003390
Areflexia
Frequent (30-79%)HP:0001284
Cavus foot
Frequent (30-79%)HP:0001761
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
Distal upper limb amyotrophy
Frequent (30-79%)HP:0007149
Distal upper limb muscle weakness
Frequent (30-79%)HP:0008959
Foot deformity
Frequent (30-79%)HP:0001760
Hammertoe
Frequent (30-79%)HP:0001765
Hand muscle atrophy
Frequent (30-79%)HP:0009130
Hand muscle weakness
Frequent (30-79%)HP:0030237
Loss of large myelinated fibres
Frequent (30-79%)HP:0003387
Peroneal muscle atrophy
Frequent (30-79%)HP:0009049
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Proximal lower limb muscle atrophy
Frequent (30-79%)HP:0008956
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Steppage gait
Frequent (30-79%)HP:0003376
Toe extensor amyotrophy
Frequent (30-79%)HP:0011916
Decreased number of small peripheral myelinated nerve fibers
Occasional (5-29%)HP:0007249
Inability to walk
Occasional (5-29%)HP:0002540
Pelvic girdle muscle wasting
Occasional (5-29%)HP:0008988
Shoulder girdle muscle wasting
Occasional (5-29%)HP:0003724
Related Conditions
Quick Facts
- SNOMED CT
- 725048002
- UMLS CUI
- C1854154
- Fully Specified Name
- Charcot-Marie-Tooth disease type 2B1 (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.