Matthew R Wiberg Bio Lab Paper 11/13/13 Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA) was first

classified in the 1890s by Werdnig and Hoffman ((D'Amico, Mercuri, Tiziano, and Bertini 1-10)). SMA is a genetic disease that affects the control of muscle movement. Due to the loss of motor neurons in the spinal cord and brainstem, muscle atrophy (wasting away) weakens basic activities such as sitting up, crawling, walking, and head movement. In extremely severe cases, swallowing and breathing are affected. There are currently four phenotype classifications of SMA, each classified on the basis of age of onset and motor function achieved ((D'Amico, Mercuri, Tiziano, and Bertini 1-10)). Type I SMA Type I is the most severe, common form of the disease ((D'Amico, Mercuri, Tiziano,
and Bertini 1-10)). Infants are diagnosed before 6 months of age. Babies show several signs of

SMA I early on in life. Symptoms include, muscle contractures, deficiencies in swallowing, inability to breathe on their own, diminished muscle movement of all extremities. Life expectancy of children with SMA 1 range from a few minutes of life to 2 years of age, and most never leave the hospital. The infants who do go home will have either a tracheotomy or continuous positive airway pressure (CPAP) to do the breathing for the infant, and will have a G tube or NJ tube placed in the stomach for feeding. Quality of life is extremely diminished as most infants never develop the abilities to sit unsupported and profound paralysis that deteriorates rapidly ((D'Amico, Mercuri, Tiziano, and Bertini 1-10)). SMA Type II-IV

Type II develops in children between 6 and 12 months of age. The highest function achieved by Type II recipients is the ability to sit without support but never stand or walk unaided. The muscles continue to deteriorate as in SMA I. Type III affects children in early childhood and teenage years and may not show symptoms until the child is into adulthood. Those infected with Type III can stand and walk unassisted, but walking and climbing stairs may become increasing difficult. Many individuals will require wheelchair assistance later in life. Type IV affects adults after the age of 30. Infected persons experience muscle weakness, trembling, and slight breathing problems ((D'Amico, Mercuri, Tiziano, and Bertini 1-10)). Type 0 While SMA Types I-IV are accepted universally, there seems to be a new strand of affected individuals who show symptoms while still in the womb. Unborn affected infants are showing muscle contractures extremely early on in pregnancy. Because the contractures progress while in the womb, life expectancy is far less than infants born with SMA I. These infants that show signs of the disease are being classified as SMA Type 0. While we know that SMA is a recessive disease that is passed on to baby by both parents being carriers of the mutant SMN1 gene which affects 1 in 10,000 people, preventative care is being researched. Many couples who are carriers of the disease have a 25% chance of having an affected child. The odds sometimes seem too high for parents to risk and genetic in vitro seems to be an alternative, yet costly step in having an unaffected child. There is no cure for SMA.

Bibliography
D'Amico, Adele, Eugenio Mercuri, Francesco Tiziano, and Enrico Bertini. "Spinal Muscular Atrophy."Orphanet Jounal of Rare Diseases. 6.71 (2011): 1-10. Web. 13 Nov. 2013