Disease Information for Nemaline myopathy

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Constipation Children
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
Hyporeflexia/DTRs decreased
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
Weakness/Diffuse motor loss
Shallow Breathing Infant
Snoring
Difficulty rising from chair
Weakness
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
Laboratory Tests
Abnormal Lab Findings - Increased
Aspartamine aminotransferase (SGOT, AST) (Lab)
Diagnostic Test Results
Electrodiagnosis
EMG/Abnormal findings
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Myotonia atrophica
Polymyositis
Associated Disease & Complications
Apnea
Metabolic Myopathy
Myopathy
Neonatal Hypotonia/Floppy Baby Syndrome
Ophthalmoplegia/progressive/ext/chronic
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Process
PROCESS/Congenital/developmental (category)
Synonyms
Synonym
Myopathies Nemaline, Myopathies Rod, Myopathies Rod Body, Myopathy Nemaline, Myopathy Rod, Myopathy Rod Body, myopathy rods, Nemaline body disease, Nemaline Myopathies, Nemaline myopathy, Nemaline myopathy (disorder), Rod Body Myopathies, Rod Body Myopathy, Rod Myopathies, Rod Myopathy, rods myopathy, Synonym/Congenital rod disease, Synonym/Rod myopathy
Definition

A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face; Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane; This disorder is genetically heterogeneous and may occasionally present in adults; (Adams et al, Principles of Neurology, 6th ed, p1453)------------------------------------Nemaline Myopathy; Congenital Rod Disease; NM; Rod Myopathy; Nemaline Myopathy is a rare inherited neuromuscular disease that is usually apparent at birth (congenital) and characterized by extreme muscle weakness (hypotonia); Laboratory examination of muscle tissue samples from people with Nemaline Myopathy reveal the presence of fine fibrous threads known as nemaline rods that interfere with the muscle function-----------[NORD]---------------------

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External Links Related to Nemaline myopathy
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Wikipedia
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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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