Autosomal recessive limb girdle muscular dystrophy type 2Q

disorder

SNOMED 726615005CUI C3150989

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.

Muscle weakness, progressive, proximal

Very frequent (80-99%)HP:0009073

Axial muscle atrophy

Frequent (30-79%)HP:0040287

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Frequent falls

Frequent (30-79%)HP:0002359

Gowers sign

Frequent (30-79%)HP:0003391

Hip-girdle muscle weakness

Frequent (30-79%)HP:0003749

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Loss of ambulation

Frequent (30-79%)HP:0002505

Muscle atrophy, neurogenic

Frequent (30-79%)HP:0003202

No development of motor milestones

Frequent (30-79%)HP:0001270

Absent tendon reflexes

Occasional (5-29%)HP:0001284

Achilles tendon contracture

Occasional (5-29%)HP:0001771

Bilateral facial muscle weakness

Occasional (5-29%)HP:0430025

Bilateral ptosis

Occasional (5-29%)HP:0001488

Deglutition disorder

Occasional (5-29%)HP:0002015

Delayed gross motor development

Occasional (5-29%)HP:0002194

Distal muscle weakness in lower limbs

Occasional (5-29%)HP:0009053

Increased lactate dehydrogenase level

Occasional (5-29%)HP:0025435

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Mental and motor retardation

Occasional (5-29%)HP:0001263

Muscle weakness, generalised

Occasional (5-29%)HP:0003324

Nasal speech

Occasional (5-29%)HP:0001611

Proximal upper limb muscle hypertrophy

Occasional (5-29%)HP:0040266

Abnormality of the cardiovascular system

Very rare (1-4%)HP:0001626

Abnormality of the respiratory system

Very rare (1-4%)HP:0002086

Bronchiolitis

Very rare (1-4%)HP:0011950

Complete right bundle branch block

Very rare (1-4%)HP:0011712

Exertional dyspnea

Very rare (1-4%)HP:0002875

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 726615005
UMLS CUI: C3150989
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2Q (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.