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Autosomal recessive limb girdle muscular dystrophy type 2K

disorder
SNOMED 720523006CUI C1836373

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.

Delayed ability to walk
Always present (100%)HP:0031936
Hypoglycosylation of alpha-dystroglycan
Always present (100%)HP:0030046
Difficulty walking up stairs
Very frequent (80-99%)HP:0003551
Central nuclei
Frequent (30-79%)HP:0003687
Congenital muscular dystrophy
Frequent (30-79%)HP:0003560
Decreased size of cranium
Frequent (30-79%)HP:0000252
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Mental deficiency
Frequent (30-79%)HP:0001249
Positive Gower sign
Frequent (30-79%)HP:0003391
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Speech and language difficulties
Frequent (30-79%)HP:0000750
Stiff joint
Frequent (30-79%)HP:0001387
Thigh hypertrophy
Frequent (30-79%)HP:0003733
Waddling gait
Frequent (30-79%)HP:0002515
ASD
Occasional (5-29%)HP:0000729
Coughing
Occasional (5-29%)HP:0012735
Difficulty breathing
Occasional (5-29%)HP:0002094
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Easy fatigability
Occasional (5-29%)HP:0003388
Gastro pain
Occasional (5-29%)HP:0002027
Hypotonia, in neonatal onset
Occasional (5-29%)HP:0001319
Impaired visuospatial constructive cognition
Occasional (5-29%)HP:0010794
Laboured breathing
Occasional (5-29%)HP:0002098
Left ventricular wall hypertrophy
Occasional (5-29%)HP:0001712
Limb-girdle muscle weakness
Occasional (5-29%)HP:0003325
Muscle atrophy, generalised
Occasional (5-29%)HP:0003700
Myopathy
Occasional (5-29%)HP:0003198

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT
720523006
UMLS CUI
C1836373
Fully Specified Name
Autosomal recessive limb girdle muscular dystrophy type 2K (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.