X-linked Charcot-Marie-Tooth disease type 2

disorder

SNOMED 763457000CUI C1844873

Overview

X-linked Charcot-Marie-Tooth disease type 2 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 tendon reflexes

Frequent (30-79%)HP:0001284

Decreased motor nerve conduction velocity

Frequent (30-79%)HP:0003431

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

EMG: chronic denervation signs

Frequent (30-79%)HP:0003444

Gait disturbance

Frequent (30-79%)HP:0001288

Hand muscle weakness

Frequent (30-79%)HP:0030237

Inability to heel walk

Frequent (30-79%)HP:0009027

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Loss of distal sensation

Frequent (30-79%)HP:0002936

Lower limb degeneration

Frequent (30-79%)HP:0008944

Peroneal muscle weakness

Frequent (30-79%)HP:0011727

Pes cavus

Frequent (30-79%)HP:0001761

Steppage gait

Frequent (30-79%)HP:0003376

Tibialis anterior amyotrophy

Frequent (30-79%)HP:0011399

tremors in hands

Frequent (30-79%)HP:0002378

Clasp-knife sign

Occasional (5-29%)HP:0031866

Damaged optic nerve

Occasional (5-29%)HP:0001138

Decreased visual acuity, slowly progressive

Occasional (5-29%)HP:0007924

Distal muscle atrophy, upper and lower limbs

Occasional (5-29%)HP:0003693

Dull intelligence

Occasional (5-29%)HP:0001249

Extensor plantar responses

Occasional (5-29%)HP:0003487

Hyperactive deep tendon reflexes

Occasional (5-29%)HP:0006801

Hyporeflexia

Occasional (5-29%)HP:0001265

Increased reflexes

Occasional (5-29%)HP:0001347

Optic disc pallor

Occasional (5-29%)HP:0000543

Sensorineural deafness

Occasional (5-29%)HP:0000407

Spastic paraparesis

Occasional (5-29%)HP:0002313

EMG: axonal abnormality

HP:0003482

Neuropathy

HP:0009830

Upper limb muscle weakness

HP:0003484

Related Conditions

X-linked hereditary motor and sensory neuropathy(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 763457000
UMLS CUI: C1844873
Fully Specified Name: X-linked Charcot-Marie-Tooth disease type 2 (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.