August is SMA Awareness Month. Here at Butterfly Kisses, we have reached out to several children with Spinal Muscular Atrophy, or SMA. According to fsma.org, their organization has been coordinating a National Awareness Month for SMA since 1996. Raising awareness of SMA in the general pulic can help lead to increased resources for SMA research and better care for SMA patients. The majority of people, including doctors, nurses and community members, do not know about SMA until it directly affects them. This is where you can help. -Spinal Muscular Atrophy kills more babies than any other genetic disease. -SMA is incurable, untreatable, fatal, and underfunded. -The gene is carried by seven million potential parents, most unknowingly. -SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. The mind remains unaffected, while the muscles waste away. -SMA presents in a broad clinical spectrum and is classified into three types based on disease severity: type I, type II, and type III. Approximately 65% of all new SMA patients are type I severe or type II. -SMA occurs when a vital gene (“survivor motor neuron” gene or “SMN”) is deleted or mutated, preventing the creation of a protein necessary for muscle strength. A second, nearly identical copy gene, SMN2, is present in all SMA patients. SMA disease severity correlates inversely with increased SMN2 gene copy number.
Posted on: Thu, 21 Aug 2014 00:03:28 +0000
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