Disease Information for Central core disease

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscle weakness
Muscles Soft/Doughy Infant
Proximal muscle weakness
Rolling Over Delay Infant
Symmetrical muscle involvement/stiffness
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Rule Outs
Eaton-Lambert syndrome
Associated Disease & Complications
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Metabolic myopathy (ex)
Process
PROCESS/Congenital/developmental (category)
Synonyms
Synonym
CENTRAL CORE DIS, central core disease, Central core disease (disorder), Central Core Diseases, Central Core Myopathies, Central Core Myopathy, disease central core, Myopathies Central Core, Myopathy Central Core, Shy Magee Syndrome, Shy's disease, Syndrome Shy Magee, Synonym/Congenital nonprogressive myopathy (core), Synonym/Muscle core disease
Definition

An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

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External Links Related to Central core disease
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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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