Disease Information for Merosin Deficient Muscular Dystrophy

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Clinical Manifestations
Signs & Symptoms
Muscle weakness
Delayed crawling milestone/infant
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Weakness/Diffuse motor loss
Clinical Presentation & Variations
Early Childhood/Infancy Muscular Dystrophy
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Infant
Laboratory Tests
Abnormal Lab Findings - Increased
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle Central Nuclei
Electrodiagnosis
EMG/Abnormal findings
CT Scan
MRI/Head Scan Abnormal
MRI/Head White matter lesions
Associated Diseases & Rule outs
Associated Disease & Complications
Epilepsy
Joint contractures
Mental retardation
Merosin Deficient Muscular Dystrophy
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene locus Chromosome 6q
Pathophysiology/Merosin Deficient Muscle
Pathophysiology/Gene locus 6q22-23
Pathophysiology/LAMA2 Laminine-2 alfa mutation
Process
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Muscular dystrophy disorder (ex)
Synonyms
Synonym
Synonym/Congenital Muscular Dystrophy
Definition
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External Links Related to Merosin Deficient Muscular Dystrophy
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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