Overview
Charcot-Marie-Tooth disease type 4D 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.
Absent tendon reflexes
Always present (100%)HP:0001284
Decreased distal vibration sense
Always present (100%)HP:0006886
Decreased nerve conduction velocity
Always present (100%)HP:0000762
Impaired distal proprioception
Always present (100%)HP:0006858
Impaired distal tactile sensation
Always present (100%)HP:0006937
Decreased amplitude of sensory action potentials
Very frequent (80-99%)HP:0007078
Decreased motor nerve conduction velocity
Very frequent (80-99%)HP:0003431
Demyelinating peripheral neuropathy
Very frequent (80-99%)HP:0007108
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Abnormality of the feet
Frequent (30-79%)HP:0001760
Claw hand deformity
Frequent (30-79%)HP:0034337
Delayed motor milestones
Frequent (30-79%)HP:0001270
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Frequent falls
Frequent (30-79%)HP:0002359
Glaucoma
Frequent (30-79%)HP:0000501
Lower limb amyotrophy
Frequent (30-79%)HP:0007210
Near sighted
Frequent (30-79%)HP:0000545
Sensorineural deafness
Frequent (30-79%)HP:0000407
Unsteady walk
Frequent (30-79%)HP:0002317
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Amyotrophy involving the upper limbs
Occasional (5-29%)HP:0009129
Distal upper limb muscle weakness
Occasional (5-29%)HP:0008959
Hammertoe
Occasional (5-29%)HP:0001765
Inability to walk
Occasional (5-29%)HP:0002540
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Loss of distal sensation
Occasional (5-29%)HP:0002936
Pes cavus
Occasional (5-29%)HP:0001761
Postural tremor
Occasional (5-29%)HP:0002174
Proximal neurogenic muscle weakness
Occasional (5-29%)HP:0003701
Sensory impairment
Occasional (5-29%)HP:0003474
Related Conditions
Quick Facts
- SNOMED CT
- 715798007
- UMLS CUI
- C1832334
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4D (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.