SYMPTOMSInfants:• Very little/ weak muscles – often first noticed in shoulders and legs• Breathing and feeding problems• Low head control• Worsening muscle weakness• Little movement• Low muscle toneChildren:• Respiratory conditions that are increasing in severity• Nasally speech• Increasingly worse posture
TREATMENTS• No prevention treatments• Supportive Care is important to the patient• Pay attention to the respiratory system• Physical therapy to help with spine structure and muscle and tendon strength• Brace may be needed
LOCATION OF THE GENE AFFECTING THISDISORDERThe gene that causes this disorder is located in chromosome 5q13and is known as survival motor neuron gene 1 (SMN1) You can see in the diagram that the gene that malfunctions causing SMA Type 1 is located where is says “SMA focus”
WHAT THE GENE SHOULD DO• Produce SMN1 proteins-giving instructions to build SMN proteins• SMN proteins play a huge role in the survival of motor neurons• Motor neurons send impulses which stimulate nerve cellsWHAT HAPPENS IN SMA• Little or no SMN1 proteins are produced• Little or no SMN proteins are produced• Motor neurons are not made and cannot send impulses which stimulate nerve cells
INHERITANCE PATTERN• It has autosomal recessive inheritance pattern that means that it is a recessive gene so in order to have the disease you have to have two mutated genes.• So one of your parents could have one gene and not express it that means they are a carrier. So their kids could inherit it though.• There is often no family history of the disease.
PREVALENCE IN POPULATION• 1 in 6000 people have the disease but 1 in 40 are carriers• Affects all people of all races and genders
BIBLIOGRAPHYBoard, A.D.A.M. Editorial. Spinal Muscular Atrophy. U.S. National Library of Medicine, 1 Feb. 2012. Web. 15 Dec. 2012.Overview | Spinal Muscular Atrophy | MDA." Muscular Dystrophy Association. Muscular Dystrophy Association, n.d. Web. 18 Dec. 2012.SMA in Laymens Terms." SMA in Laymens Terms. N.p., n.d. Web. 18 Dec. 2012.