Spinal muscular atrophy: newborn and carrier screening.
Spinal muscular atrophy (SMA) is a common autosomal-recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetric muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei. The management of SMA involves supportive and preventive strategies. New treatments based on increasing the expression of full-length SMN protein levels from the SMN2 gene are being investigated and may be dependent on early detection of the disorder, before the irreversible loss of motor neurons. This article focuses on the prevention of SMA through population carrier screening and newborn screening as a means of ensuring early intervention for SMA.
Prior
Thomas W
TW
Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA. thomas.prior@osumc.edu
D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D009154:Mutation; D015997:Neonatal Screening; D011247:Pregnancy; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000378:metabolism; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics / Q000378:metabolism
C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein