Spinal Muscular Atrophy Free Essay, Term Paper and Book Report
Spinal Muscular Atrophy or SMA for short is classified as a neuromuscular disease. SMA is inherited from both parents and caused by the loss of specialized nerve cells, motor neuron. Motor neurons located in the brain stem and spinal chord. Deletions or mutations of both copies of the SMN1 gene dont make enough SMN protein for the motor neurons to survive. Some people have extra copies of SMN2 which can compensate a little for the loss of proteins needed for the survival of motor neurons so the symptoms are less severe. The mutations or deletion of the SMN1 gene is located on exon 7, chromosome 5q13.
Two French physicians, François-Amilicar Aran and Guillaume Duchene were the first to discover the first form of the SMA disorder during the 1850s. Late 1800s, two German doctors, Guido Werdnig and Johann Hoffman described a similar disease in children type I of the disease. Around 1950, Swedish doctors, Eric Klas Henrik Kugelburg and Lisa Welander another form of the disease, type III.
SMA causes weakness of voluntary muscles. SMA effects walking, crawling, sitting up, head mov......
Word Count: 575
Page Count: 2.3 (250 words a page / double spaced)
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