Autosomal dominant Charcot-Marie-Tooth disease type 2E

disorder

SNOMED 717012004CUI C1843225

Overview

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

Areflexia

Always present (100%)HP:0001284

Decreased distal vibration sense

Always present (100%)HP:0006886

Impaired pain sensation

Always present (100%)HP:0007328

Loss of distal sensation

Always present (100%)HP:0002936

Onion bulb formation

Always present (100%)HP:0003383

Demyelinating motor neuropathy

Very frequent (80-99%)HP:0007220

Demyelinating sensory neuropathy

Very frequent (80-99%)HP:0011402

Foot deformity

Very frequent (80-99%)HP:0001760

Gait disturbance

Very frequent (80-99%)HP:0001288

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Upper limb muscle weakness

Very frequent (80-99%)HP:0003484

Abnormal motor evoked potentials

Frequent (30-79%)HP:0012896

Cavus foot

Frequent (30-79%)HP:0001761

Decreased distal sensory nerve action potential

Frequent (30-79%)HP:0007230

Decreased or absent ankle reflexes

Frequent (30-79%)HP:0200101

Difficulty running

Frequent (30-79%)HP:0009046

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Distal upper limb muscle weakness

Frequent (30-79%)HP:0008959

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Extremely elevated serum CK level

Frequent (30-79%)HP:0030235

Frequent falls

Frequent (30-79%)HP:0002359

Hammertoe

Frequent (30-79%)HP:0001765

Hand muscle atrophy

Frequent (30-79%)HP:0009130

Hyporeflexia

Frequent (30-79%)HP:0001265

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Sensory impairment

Frequent (30-79%)HP:0003474

Talipes calcaneovalgus

Frequent (30-79%)HP:0001884

Related Conditions

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

Quick Facts

SNOMED CT: 717012004
UMLS CUI: C1843225
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2E (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.