Overview
Charcot-Marie-Tooth disease type 4A 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
Decreased sensory NCV
Always present (100%)HP:0003448
Onion bulb formation
Always present (100%)HP:0003383
Segmental peripheral demyelination
Always present (100%)HP:0007107
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Cavus foot
Very frequent (80-99%)HP:0001761
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
Distal muscle atrophy, upper and lower limbs
Very frequent (80-99%)HP:0003693
Fine motor skill dysfunction
Very frequent (80-99%)HP:0007010
Foot deformity
Very frequent (80-99%)HP:0001760
Poor gross motor coordination
Very frequent (80-99%)HP:0007015
Weakness of outermost muscles
Very frequent (80-99%)HP:0002460
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Chronic axonal neuropathy
Frequent (30-79%)HP:0007267
Contractures of the hands
Frequent (30-79%)HP:0009473
Decreased distal vibration sense
Frequent (30-79%)HP:0006886
Delayed motor milestones
Frequent (30-79%)HP:0001270
Hammertoe
Frequent (30-79%)HP:0001765
Hand muscle weakness
Frequent (30-79%)HP:0030237
Hoarse voice due to vocal cord paresis
Frequent (30-79%)HP:0001604
Husky voice
Frequent (30-79%)HP:0001609
Hyporeflexia at ankle joints
Frequent (30-79%)HP:0009072
Hyporeflexia of upper limbs
Frequent (30-79%)HP:0012391
Impaired distal proprioception
Frequent (30-79%)HP:0006858
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Impaired pain sensation
Frequent (30-79%)HP:0007328
Inability to walk
Frequent (30-79%)HP:0002540
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Related Conditions
Quick Facts
- SNOMED CT
- 715796006
- UMLS CUI
- C1859198
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4A (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.