Charcot-Marie-Tooth disease, type IA

disorder

SNOMED 40632002CUI C0270911

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased motor nerve conduction velocity

Frequent (30-79%)HP:0003431

Decreased sensory NCV

Frequent (30-79%)HP:0003448

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Gait disturbance

Frequent (30-79%)HP:0001288

Hyporeflexia

Frequent (30-79%)HP:0001265

Loss of distal sensation

Frequent (30-79%)HP:0002936

Muscle wasting

Frequent (30-79%)HP:0003202

Pes cavus

Frequent (30-79%)HP:0001761

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Spinal ataxia

Frequent (30-79%)HP:0010871

Abnormality of balance

Occasional (5-29%)HP:0002141

Acute demyelinating polyneuropathy

Occasional (5-29%)HP:0007131

Diminished diaphragmatic motion

Occasional (5-29%)HP:0009113

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Paresthesia

Occasional (5-29%)HP:0003401

Shoulder pain

Occasional (5-29%)HP:0030834

Spontaneous pain sensation

Occasional (5-29%)HP:0010833

Hyperactive deep tendon reflexes

Very rare (1-4%)HP:0006801

Absent tendon reflexes

HP:0001284

Cold-induced muscle cramps

HP:0003449

Decreased number of large and small myelinated fibres

HP:0003380

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal muscle atrophy, upper and lower limbs

HP:0003693

Hammertoe

HP:0001765

Hypertrophic nerve changes

HP:0003382

Hypoacusis

HP:0000365

Inability to heel walk

HP:0009027

Irregular myelin foldings

HP:0004336

Limb muscle weakness

HP:0003690

Related Conditions

Charcot-Marie-Tooth disease, type I(parent)

Quick Facts

SNOMED CT: 40632002
UMLS CUI: C0270911
Fully Specified Name: Charcot-Marie-Tooth disease, type IA (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.