Charcot-Marie-Tooth disease, pyramidal features syndrome

disorder

SNOMED 771143004CUI C4721916

Overview

Charcot-Marie-Tooth disease, pyramidal features syndrome 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.

Weakness of outermost muscles

Always present (100%)HP:0002460

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Corticospinal signs

HP:0007256

Decreased motor nerve conduction velocity

HP:0003431

Distal muscle atrophy, upper and lower limbs

HP:0003693

Dysphonia

HP:0001618

Extensor plantar responses

HP:0003487

Frequent falls

HP:0002359

Gait disturbance

HP:0001288

Hammertoe

HP:0001765

Hypertonia

HP:0001276

Inability to heel walk

HP:0009027

Limb muscle weakness

HP:0003690

Loss of distal sensation

HP:0002936

Lower limb pain

HP:0012514

Peripheral axonal neuropathy

HP:0003477

Pes cavus

HP:0001761

Sensory neuropathy

HP:0000763

Related Conditions

Chronic nervous system disease(parent)

Hereditary motor and sensory neuropathy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 771143004
UMLS CUI: C4721916
Fully Specified Name: Hereditary motor and sensory neuropathy type 5 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.