Autosomal recessive limb girdle muscular dystrophy type 2S

disorder

SNOMED 732929002CUI C4517996

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Abnormal levels of creatine kinase in blood

Frequent (30-79%)HP:0040081

Cerebral white matter atrophy

Frequent (30-79%)HP:0012762

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Hyporeflexia

Frequent (30-79%)HP:0001265

Lens opacities

Frequent (30-79%)HP:0000518

limb girdle muscular dystrophy

Frequent (30-79%)HP:0006785

Mental retardation, borderline

Frequent (30-79%)HP:0006889

Muscle biopsy shows dystrophic changes

Frequent (30-79%)HP:0003560

Muscle fiber atrophy

Frequent (30-79%)HP:0100295

Muscle pain

Frequent (30-79%)HP:0003326

Muscle spasm

Frequent (30-79%)HP:0003394

Myopathy

Frequent (30-79%)HP:0003198

Nonverbal

Frequent (30-79%)HP:0001344

Poor school performance

Frequent (30-79%)HP:0001249

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Absent tear secretion

Occasional (5-29%)HP:0000522

Achalasia

Occasional (5-29%)HP:0002571

Choreatic disease

Occasional (5-29%)HP:0002072

CNS hypomyelination

Occasional (5-29%)HP:0003429

Decreased size of cranium

Occasional (5-29%)HP:0000252

Enlarged liver

Occasional (5-29%)HP:0002240

Epilepsy

Occasional (5-29%)HP:0001250

Exophoria

Occasional (5-29%)HP:0025313

Fatty liver

Occasional (5-29%)HP:0001397

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hypotonia, early

Occasional (5-29%)HP:0008947

Infratentorial atrophy

Occasional (5-29%)HP:0001272

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 732929002
UMLS CUI: C4517996
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2S (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.