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{{Spinal Muscular Atrophy}}
 
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Spinal muscular atrophy is the commonest [[genetic]] cause of infant mortality. It is an [[autosomal recessive]] [[neuromuscular]] disorder caused by loss of survival motor neuron gene (SMN1). It is primarily a pediatrics disorder resulting from degeneration of [[anterior horn cells]] ([[lower motor neurons]]) in [[spinal cord]] and [[brain stem]] nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raises hope for a cure in future.
Spinal muscular atrophy is the commonest [[genetic]] cause of infant mortality. It is an [[autosomal recessive]] [[neuromuscular]] disorder caused by loss of survival motor neuron gene (SMN1). It is primarily a pediatrics disorder resulting from degeneration of [[anterior horn cells]] ([[lower motor neurons]]) in [[spinal cord]] and [[brain stem]] nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raises hope for a cure in future.
==References==
{{Reflist|2}}
[[Category:Motor neuron disease]]
[[Category:Genetic disorders]]
{{WH}}
{{WS}}

Latest revision as of 16:12, 20 August 2012

Spinal Muscular Atrophy Microchapters

Home

Patient Info

Overview

Epidemiology and Demographics

Risk Factors

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Molecular Biology

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Diagnosis

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Symptom

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Electrolyte & Biomarker Studies

Electrocardiogram

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Treatment

Outcome measures

Therapeutics development

Indications For Surgery

Research

Pre-Operative Assessment

Post-Operative Assessment

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]



Spinal muscular atrophy is the commonest genetic cause of infant mortality. It is an autosomal recessive neuromuscular disorder caused by loss of survival motor neuron gene (SMN1). It is primarily a pediatrics disorder resulting from degeneration of anterior horn cells (lower motor neurons) in spinal cord and brain stem nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raises hope for a cure in future.

References

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