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Autosomal dominant Charcot-Marie-Tooth disease type 2W

disorder
SNOMED 1172634009CUI C5567486

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2W 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.

Demyelinating peripheral neuropathy
Very frequent (80-99%)HP:0007108
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Distal sensory loss, especially vibratory sense
Very frequent (80-99%)HP:0002166
Distal upper limb muscle weakness
Very frequent (80-99%)HP:0008959
Sensory impairment
Very frequent (80-99%)HP:0003474
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
Foot deformity
Frequent (30-79%)HP:0001760
Gait disturbance
Frequent (30-79%)HP:0001288
Length dependent motor neuropathy
Frequent (30-79%)HP:0007002
Pes cavus
Frequent (30-79%)HP:0001761
Steppage gait
Frequent (30-79%)HP:0003376
Absent Achilles reflex
Occasional (5-29%)HP:0003438
Hand muscle weakness
Occasional (5-29%)HP:0030237
Impaired distal tactile sensation
Occasional (5-29%)HP:0006937
Impaired pain sensation
Occasional (5-29%)HP:0007328
Intrinsic hand muscle atrophy
Occasional (5-29%)HP:0008954
Pain
Occasional (5-29%)HP:0012531
Slender long bone
Occasional (5-29%)HP:0003100
Walking on tiptoes
Occasional (5-29%)HP:0030051
Distal muscle atrophy, upper and lower limbs
HP:0003693
Hammertoe
HP:0001765
Loss of distal sensation
HP:0002936
Neuropathy
HP:0009830
Overactive knee reflex
HP:0007083
Weakness of outermost muscles
HP:0002460

Related Conditions

Autosomal dominant Charcot-Marie-Tooth disease type 2(parent)

Quick Facts

SNOMED CT
1172634009
UMLS CUI
C5567486
Fully Specified Name
Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
25
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.