Disease Information for Spinal muscle atrophy

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Tongue Protrudes Infant
Central hypotonia, infants
Delay Sitting Unsupported Infant
Loss of muscle mass
Mouth Hangs Open Infant
Muscle Atrophy
Muscle fasciculations
Muscle tone/decreased
Muscle twitches
Muscle weakness
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Abdominal reflex decreased
Absent deep tendon reflexes
Ankle reflexes absent
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
Intelligence normal
Limb weakness/signs
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
Muscle Wasting/Diffuse
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset Infant Severe Adult Mild
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 (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Fiber atrophy
PATH/Anterior horn cell loss/spinal cord
Electrodiagnosis
EMG/Abnormal findings
Associated Diseases & Rule outs
Rule Outs
Amyotrophic lateral sclerosis
Dermatomyositis
Eaton-Lambert syndrome
Peroneal muscular atrophy/Charcot Marie Tooth
Syringomyelia
Associated Disease & Complications
Motor neuron disease
Myelopathy manifestations/involvement
Neonatal Hypotonia/Floppy Baby Syndrome
Progressive Bulbar palsy
Scoliosis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Motor neuron/unit disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 11q13
Pathophysiology/Gene locus 15q12
Pathophysiology/Gene locus 7p15
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/SMN gene mutation (Survivor motor neuron)
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Chromosome gene locus 5q12.2-q13.3
Process
PROCESS/Atrophic disorders (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Use/Age/atrophic disorder (category)
Definition

A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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