Merosin deficient congenital muscular dystrophy

disorder

SNOMED 111503008CUI C1263858

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 circulating creatine phosphokinase

Always present (100%)HP:0003236

Absent muscle fibre laminin alpha 2

Very frequent (80-99%)HP:0030091

Central hypotonia

Very frequent (80-99%)HP:0001252

Congenital muscular dystrophy

Very frequent (80-99%)HP:0003560

Decreased muscle movement

Very frequent (80-99%)HP:0002375

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Highly elevated serum CPK

Very frequent (80-99%)HP:0030234

Inability to walk

Very frequent (80-99%)HP:0002540

Increased connective tissue

Very frequent (80-99%)HP:0009025

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Muscle fiber atrophy

Very frequent (80-99%)HP:0100295

Muscle inflammation

Very frequent (80-99%)HP:0100614

Muscle weakness

Very frequent (80-99%)HP:0001324

Respiratory failure

Very frequent (80-99%)HP:0002878

Weak cry

Very frequent (80-99%)HP:0001612

Abnormal brainstem MRI signal intensity

Frequent (30-79%)HP:0012747

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Brain swelling

Frequent (30-79%)HP:0002181

Chewing difficulties

Frequent (30-79%)HP:0005216

Derangement of the temporomandibular joint

Frequent (30-79%)HP:0010754

Epilepsy

Frequent (30-79%)HP:0001250

Facial palsy

Frequent (30-79%)HP:0010628

Flexion contractures

Frequent (30-79%)HP:0001371

Increase in astrocyte number

Frequent (30-79%)HP:0002446

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Low intelligence

Frequent (30-79%)HP:0001249

Lower respiratory tract infections

Frequent (30-79%)HP:0002783

Pulmonary aspiration

Frequent (30-79%)HP:0002835

Abnormal visual evoked responses

Occasional (5-29%)HP:0000649

Related Conditions

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 111503008
UMLS CUI: C1263858
Fully Specified Name: Merosin deficient congenital muscular dystrophy (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.