Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation

disorder

SNOMED 765046002CUI C4084821

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.

Distal limb muscle weakness due to peripheral neuropathy

Always present (100%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Gait disturbance

Always present (100%)HP:0001288

Hand muscle atrophy

Always present (100%)HP:0009130

Loss of distal sensation

Always present (100%)HP:0002936

Peripheral axonal neuropathy

Always present (100%)HP:0003477

Steppage gait

Always present (100%)HP:0003376

Hand muscle weakness

Frequent (30-79%)HP:0030237

Areflexia

HP:0001284

Inability to heel walk

HP:0009027

Related Conditions

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

Quick Facts

SNOMED CT: 765046002
UMLS CUI: C4084821
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.