Overview
Charcot-Marie-Tooth disease type 4C 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.
Loss of distal sensation
Always present (100%)HP:0002936
Abnormality of the feet
Very frequent (80-99%)HP:0001760
Decreased motor nerve conduction velocity
Very frequent (80-99%)HP:0003431
Decreased number of large and small myelinated fibres
Very frequent (80-99%)HP:0003380
Demyelinating peripheral neuropathy
Very frequent (80-99%)HP:0007108
EMG: chronic denervation signs
Very frequent (80-99%)HP:0003444
Functional motor deficit
Very frequent (80-99%)HP:0004302
Gait disturbance
Very frequent (80-99%)HP:0001288
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Areflexia
Frequent (30-79%)HP:0001284
Cavus foot
Frequent (30-79%)HP:0001761
Decreased distal vibration sense
Frequent (30-79%)HP:0006886
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Frequent falls
Frequent (30-79%)HP:0002359
Hammertoe
Frequent (30-79%)HP:0001765
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Inability to heel walk
Frequent (30-79%)HP:0009027
Muscle pain
Frequent (30-79%)HP:0003326
Muscle spasm
Frequent (30-79%)HP:0003394
Proximal neurogenic muscle weakness
Frequent (30-79%)HP:0003701
Scoliosis
Frequent (30-79%)HP:0002650
Spinal neuroarthropathy
Frequent (30-79%)HP:0008443
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormal pupillary light reflex
Occasional (5-29%)HP:0007695
Alveolar hypoventilation
Occasional (5-29%)HP:0002791
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Deafness
Occasional (5-29%)HP:0000365
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Double vision
Occasional (5-29%)HP:0000651
Related Conditions
Quick Facts
- SNOMED CT
- 715797002
- UMLS CUI
- C1866636
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4C (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.