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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
- Systemic
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Disease Information for Nemaline myopathy
- 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)
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- 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
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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
- 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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