Alpha-B crystallin-related late-onset myopathy

disorder

SNOMED 783770002CUI C5191079

Overview

Alpha-B crystallin-related late-onset myopathy 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.

Deglutition disorder

Very frequent (80-99%)HP:0002015

Dysphonia

Very frequent (80-99%)HP:0001618

Muscle weakness, progressive, distal

Very frequent (80-99%)HP:0009063

Abnormal levels of creatine kinase in blood

Frequent (30-79%)HP:0040081

Accumulation of muscle fiber desmin

Frequent (30-79%)HP:0030225

Autophagic vacuoles

Frequent (30-79%)HP:0003736

Axial muscle weakness

Frequent (30-79%)HP:0003327

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Flaccid neck

Frequent (30-79%)HP:0000467

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Muscle fiber inclusion bodies

Frequent (30-79%)HP:0100299

Posterior capsular cataract

Frequent (30-79%)HP:0100020

Bilateral facial weakness

Occasional (5-29%)HP:0001349

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Gait disturbance

Occasional (5-29%)HP:0001288

Muscle stiffness

Occasional (5-29%)HP:0003552

Muscle weakness, progressive, proximal

Occasional (5-29%)HP:0009073

Respiratory failure due to muscle weakness

Occasional (5-29%)HP:0002747

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Myofibrillar myopathy(parent)

Chronic musculoskeletal disorder(parent)

Quick Facts

SNOMED CT: 783770002
UMLS CUI: C5191079
Fully Specified Name: Alpha-B crystallin-related late-onset myopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.