Autosomal dominant Charcot-Marie-Tooth disease type 2Y

disorder

SNOMED 1187565005CUI C5569026

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2Y 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.

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Impaired distal tactile sensation

Always present (100%)HP:0006937

Weakness of the intrinsic hand muscles

Very frequent (80-99%)HP:0009005

Abnormality of balance

Frequent (30-79%)HP:0002141

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Axonal neuropathy

Frequent (30-79%)HP:0003477

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Difficulty running

Frequent (30-79%)HP:0009046

Distal limb muscle weakness due to peripheral neuropathy

Frequent (30-79%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Distal sensory loss, especially vibratory sense

Frequent (30-79%)HP:0002166

Distal upper limb muscle weakness

Frequent (30-79%)HP:0008959

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Gait disturbance

Frequent (30-79%)HP:0001288

Hand muscle atrophy

Frequent (30-79%)HP:0009130

Inability to heel walk

Frequent (30-79%)HP:0009027

Loss of distal sensation

Frequent (30-79%)HP:0002936

Loss of tactile sensation

Frequent (30-79%)HP:0010830

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Pes cavus

Frequent (30-79%)HP:0001761

Abolished vibration sense

Occasional (5-29%)HP:0006944

Behavioural disorders

Occasional (5-29%)HP:0000708

Decreased distal vibration sense

Occasional (5-29%)HP:0006886

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Distal muscle weakness in lower limbs

Occasional (5-29%)HP:0009053

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Emotional lability

Occasional (5-29%)HP:0000712

Frequent falls

Occasional (5-29%)HP:0002359

Hammertoe

Occasional (5-29%)HP:0001765

Related Conditions

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

Quick Facts

SNOMED CT: 1187565005
UMLS CUI: C5569026
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y (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.