Research Corner - Q&A Spinal Muscular Atrophy by Lenny Parracino | Date Released : 17 Dec 2005 0 comments Print Close Question: Would you please be able to give me some information on the disease spinal muscular atrophy? Answer: Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is a group of inherited and often fatal diseases that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control and even swallowing. SMA is one of the most prevalent genetic disorders. One in every 6,000 babies is born with SMA. Of children diagnosed before age two, 50 percent will die before their second birthdays. SMA can strike anyone of any age, race or gender. One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA. There are five different types of the disease. Type 1, or Werdnig-Hoffmann Disease, is the most severe form. Children with Type I tend to be weak and lack motor development, rendering movement difficult. Children afflicted with Type I cannot sit unaided and have trouble breathing, sucking and swallowing. Type I SMA strikes infants between birth and six months. Type II is slightly less severe. Type II patients may be able to sit unaided or even stand with support and usually do not suffer from feeding and swallowing difficulties. However, they are at increased risk for complications from respiratory infections. Type II SMA affects infants between seven and 18 months old. Type III is the least deadly form of childhood-onset SMA. Tyep III is also known as Kugelberg-Welander Disease. Type III patients are able to stand, but weakness is prevalent and tends to eventually sentence its victims to a wheelchair. Type III SMA strikes children after the age of 18 months but can surface even in adulthood. Type IV is the adult form of the disease in which symptoms tend to begin after age 35. Symptoms usually begin in the hands, feet and tongue and spread to other areas of the body. Adult Onset X-Linked SMA, also known as Kennedy's Syndrome or Bulbo-Spinal Muscular Atrophy, occurs only in men. Facial and tongue muscles are noticeably affected. In addition, these men also often have breast enlargement known as gynecomastia. Like all forms of SMA, the course of the disease is variable, but in general, it tends to progress slowly. SMA does not affect sensation and intellectual activity in patients. It commonly is observed that patients with SMA are unusually bright and sociable. Research In 1999, investigators at The Ohio State University replicated SMA in a mouse model. The researchers have demonstrated that when the mice have high amounts of the SMN2 gene, which is present in all human SMA patients, the SMA phenotype is corrected and they develop normally. These findings support the conclusion that large amounts of the protein could act to prevent the damage caused by SMA or even reverse the impact of the disease. Since then, many more important research steps have been made. The current focus of research is on finding an effective treatment for SMA. For more information, visit http://www.fsma.org. Back to top About the author: Lenny Parracino Lenny Parracino is a former author, hands on instructor and clinician for The National Academy of Sports Medicine. Currently, he serves as a faculty member of the Gray Institute of Applied Functional Science. He has spent over 20 years serving the health industry as an international lecturer, soft tissue therapist and movement therapist. Lenny has performed over 300 lectures/workshops, has written educational materials and consulted/lectured in the fitness, manual therapy and educational industry and for various medical organizations around the world. Lenny has earned his degree in Health Science, is a Fellow of Applied Functional Science, holds a California certification/license to practice soft tissue therapy. As a full time clinician, he integrates an eclectic approach of movement conditioning with Dr. Vince Guagliano and Dr. Carina Escudero at AIM Sports Medicine in Hermosa Beach, California. Full Author Details Related content Content from Lenny Parracino There is no related content. 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