Spinal Muscular Atrophy (SMA)

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Spinal Muscular Atrophy Spinal muscular atrophy or SMA for short is a neuromuscular disease. SMA represents a group of autosomal-recessive disorders, leading to muscle weakness and atrophy. This disorder is common and is passed on genetically to children by their parents. You cannot “catch” Spinal Muscular Atrophy by being around someone who has it. It is caused by progressive deterioration of the anterior horn cells of the spinal cord. (Hockenberry & Wilson, 2007, p. 1) SMA is a genetic disease that affects primarily children. SMA is the “second most common…inherited disorder after cystic fibrosis”. One out of fourty people is a carrier of this recessive gene. SMA affects the a child’s muscular development,…show more content…
Children are usually diagnosed before six months of age, more often before three months of age. Symptoms may even start in the womb. (Hockenberry & Wilson, 2007, p. 1816)The most cardinal clinical manifestation of the disease is inactivity. Other symptoms are floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, poor sucking reflex, weakness, absent deep tendon reflexes, weak cry or cough, , flaccid or reduced muscle tone, the patient may tire easily, exhibit a failure to thrive, posses abnormal tongue movements, and the patient is unable to sit alone, roll over independently, or walk. Their chest may appear concave or Bell-shaped. They have legs that stay in the frog position. Most of the patients diagnosed with Type I spinal muscular atrophy will die before they reach the age of 24 months. (McKusick, 1986-2009, p. 2) The second form of SMA- Type II, also known as juvenile SMA, intermediate SMA, or chronic SMA, has an onset of 6 and18 months. The legs are usually more impaired than the arms. These children can usually sit without support if placed in position. Some can even stand or walk with assistance. Feeding and swallowing problems are not common in Type II children, but can still be at risk. Life span for these patients varies so widely there isn’t one.(Piepers,

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