Adult-onset distal myopathy due to VCP (valosin containing protein) mutation

disorder

SNOMED 770792007CUI C4749506

Overview

Adult-onset distal myopathy due to VCP (valosin containing protein) mutation 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.

Distal limb muscle weakness due to peripheral neuropathy

Very frequent (80-99%)HP:0002460

Abnormality of the musculature of the lower limbs

Frequent (30-79%)HP:0001437

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Fatty replacement of skeletal muscle

Frequent (30-79%)HP:0012548

Frequent falls

Frequent (30-79%)HP:0002359

Gait disturbance

Frequent (30-79%)HP:0001288

Inability to heel walk

Frequent (30-79%)HP:0009027

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Muscle fasciculation

Frequent (30-79%)HP:0002380

Muscle pain

Frequent (30-79%)HP:0003326

Muscle spasm

Frequent (30-79%)HP:0003394

Necrotizing myopathy

Frequent (30-79%)HP:0008978

Progressive dementia

Frequent (30-79%)HP:0000726

Rimmed vacuoles

Frequent (30-79%)HP:0003805

Scapula alata

Frequent (30-79%)HP:0003691

Weakness of the intrinsic hand muscles

Frequent (30-79%)HP:0009005

Worsening neurological symptoms

Frequent (30-79%)HP:0002344

Anal incontinence

Occasional (5-29%)HP:0002607

Back pain

Occasional (5-29%)HP:0003418

Bilateral facial weakness

Occasional (5-29%)HP:0001349

Decreased nerve conduction velocity

Occasional (5-29%)HP:0000762

Depressive episode

Occasional (5-29%)HP:0000716

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Parkinsonian disease

Occasional (5-29%)HP:0001300

Tremor

Occasional (5-29%)HP:0001337

Urinary incontinence

Occasional (5-29%)HP:0000020

Decreased vital capacity

Very rare (1-4%)HP:0002792

Related Conditions

Distal muscular dystrophy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 770792007
UMLS CUI: C4749506
Fully Specified Name: Adult-onset distal myopathy due to valosin containing protein mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.