Autosomal dominant Charcot-Marie-Tooth disease type 2A2

disorder

SNOMED 764850002CUI C4721887

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 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 Achilles reflex

Very frequent (80-99%)HP:0003438

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

Foot deformity

Very frequent (80-99%)HP:0001760

Inability to heel walk

Very frequent (80-99%)HP:0009027

Sensory axonal neuropathy

Very frequent (80-99%)HP:0003390

Sensory impairment

Very frequent (80-99%)HP:0003474

Abnormal hands

Frequent (30-79%)HP:0001155

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Difficulty running

Frequent (30-79%)HP:0009046

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Foot pain

Frequent (30-79%)HP:0025238

Frequent falls

Frequent (30-79%)HP:0002359

Hand muscle weakness

Frequent (30-79%)HP:0030237

Impaired pain sensation

Frequent (30-79%)HP:0007328

Impaired thermal sensitivity

Frequent (30-79%)HP:0010829

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Increased laxity of ankles

Frequent (30-79%)HP:0006460

Muscle spasm

Frequent (30-79%)HP:0003394

Paresis of extensor muscles of the big toe

Frequent (30-79%)HP:0002601

Pes cavus

Frequent (30-79%)HP:0001761

tremors in hands

Frequent (30-79%)HP:0002378

Abnormal spinal cord morphology

Occasional (5-29%)HP:0002143

Absent patellar reflexes

Occasional (5-29%)HP:0006844

Dysphonia

Occasional (5-29%)HP:0001618

Extensor plantar responses

Occasional (5-29%)HP:0003487

Husky voice

Occasional (5-29%)HP:0001609

Hypoacusis

Occasional (5-29%)HP:0000365

Inability to walk by childhood/adolescence

Occasional (5-29%)HP:0006915

Related Conditions

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

Quick Facts

SNOMED CT: 764850002
UMLS CUI: C4721887
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (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.