Spinal Muscular Atrophy: An Update

Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure...

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Bibliographic Details
Published in:Fetal and pediatric pathology 2011-03, Vol.30 (2), p.130-136
Main Authors: Chang, Tracy, Gieron-Korthals, Maria
Format: Article
Language:English
Subjects:
Female
floppy baby
Humans
hypotonia
Infant
Muscular Atrophy, Spinal - epidemiology
Muscular Atrophy, Spinal - genetics
Muscular Atrophy, Spinal - pathology
Muscular Atrophy, Spinal - physiopathology
Palliative Care
spinal muscular atrophy
Survival of Motor Neuron 1 Protein - genetics
treatment
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Summary:Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be symptomatic. Thus, the most appropriate aspects of care at present and future are also discussed.
ISSN:1551-3815
1551-3823
DOI:10.3109/15513815.2010.524692