Spinal Muscular atrophy overview
|
Spinal Muscular Atrophy Microchapters |
|
Spinal Muscular atrophy overview Resources |
|---|
|
Ongoing Trials on Spinal Muscular atrophy overview at Clinical Trials.gov |
|
US National Guidelines Clearinghouse on Spinal Muscular atrophy overview |
|
Directions to Hospitals Treating Spinal Muscular atrophy overview |
|
Risk calculators and risk factors for Spinal Muscular atrophy overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
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.