Exceptional Parent - August 2009 - (Page 38) August is Spinal Muscular Atrophy Awareness Month! Spinal Muscular Atrophy (SMA) is a motor neuron disease in which the motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is the number one genetic killer of children under the age of two.* THE BASICS SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes, feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel, as well as intellectual activity, are not affected. Patients are generally grouped into one of four categories, based on certain key motor function milestones. SMA is an autosomal recessive genetic disease. In order for a child to be affected by SMA, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Although both parents are carriers the likelihood of a child inheriting the disorder is 25%, or 1 in 4. An individual with SMA has a missing or mutated gene (SMN1, or survival motor neuron 1) that produces a protein in the body called Survival Motor Neuron (SMN) protein. This protein deficiency has its most severe affect on motor neurons. Motor neurons are nerve cells in the spinal cord, which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, without this protein nerve cells may shrink and eventually die, resulting in muscle weakness. As a child with SMA grows, their bodies are doubly stressed, first by the decrease in motor neurons and then by the increased demands on the nerve and muscle cells as their bodies grow larger. The resulting muscle atrophy can cause weakness and bone and spinal deformities that may lead to further loss of function, as well as additional compromise of the respiratory (breathing) system. THE TYPES OF SMA SMA patients are classified into four types based on milestones achieved at onset of SMA. Type I and II are the most prevalent. ◆ Type I, or Werdnig-Hoffmann Disease, is the most severe form of SMA. Type I SMA strikes infants between birth and six months old. Children affected with Type I cannot sit without support. ◆ Type II affects infants between seven and 18 months old. Type II patients may be able to sit unaided or even stand with support. They are at increased risk for complications from respiratory infections. ◆ Type III, also known as Kugelberg-Welander Disease, is the least deadly form of childhood-onset SMA. It strikes children as early as the age of 18 months, but can surface as late as adolescence. Type III patients are able to walk, but weakness is prevalent. Most patients eventually need to use a wheelchair. ◆ Type IV is the adult form of the disease. Symptoms tend to begin after age 35. SUPPORT Families of Spinal Muscular Atrophy (FSMA) is a non-profit, 501(c)3 tax exempt organization. Funds are specifically directed to scientific, educational or literary purposes in keeping with a charitable organization. Today, there are 27 Chapters throughout the United States and over 55,000 members and supporters working together toward the same goal of creating a treatment and cure by: funding and advancing a comprehensive research program; supporting SMA families through networking, information and services; improving care for all SMA patients; educating health professionals and the public about SMA; enlisting government support for SMA; and embracing all touched by SMA in a caring community. • *Information used in this article was provided by Families of SMA. To learn more about FSMA or to get involved, visit www.fsma.org. WHO IS AFFECTED? SMA is one of the most prevalent genetic disorders. ◆ One in every 6,000 babies is born with SMA. ◆ 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. ◆ 7.5 million Americans are carriers. 38 August 2009 • EP MAGAZINE/www.eparent.com http://www.fsma.org http://www.fsma.org http://www.eparent.com Table of Contents for the Digital Edition of Exceptional Parent - August 2009 Exceptional Parent - August 2009 Contents Ancora Imparo What's Happening Further Reading New Products 2009 Disability Awareness Night Schedule 2009 Models of Excellence in the Healthcare Profession Preterm Birth: How It Affected My Family Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children Federal Program Encourages Health Service Innovations on Developmental Disabilities Close Encounters of the Medical Kind Sitting on top of the World: One Physician's Journey to Success Raising a Noonan Syndrome Child When We Found Out Our Daughter Had CMT August is Spinal Muscular Atrophy Awareness Month! Newborn Screening Saves Babies, One Foot at a Time Another Day in the Life of the National Children's Study Evidence Based Humanity Must Be Part of the Equation Incontinence Education Series Part 7 Emergency Preparedness Series Part 4 On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions EP Bookstore Special Needs Alliance Specialcare AADMD - American Academy of Developmental Medicine and Dentistry Organizational Spotlight Living with a Disability Exceptional Parent - August 2009 Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page Cover1) Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page Cover2) Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page 1) Exceptional Parent - August 2009 - Contents (Page 2) Exceptional Parent - August 2009 - Contents (Page 3) Exceptional Parent - August 2009 - Contents (Page 4) Exceptional Parent - August 2009 - Contents (Page 5) Exceptional Parent - August 2009 - Ancora Imparo (Page 6) Exceptional Parent - August 2009 - Ancora Imparo (Page 7) Exceptional Parent - August 2009 - Ancora Imparo (Page 8) Exceptional Parent - August 2009 - Ancora Imparo (Page 9) Exceptional Parent - August 2009 - What's Happening (Page 10) Exceptional Parent - August 2009 - What's Happening (Page 11) Exceptional Parent - August 2009 - Further Reading (Page 12) Exceptional Parent - August 2009 - Further Reading (Page 13) Exceptional Parent - August 2009 - New Products (Page 14) Exceptional Parent - August 2009 - New Products (Page 15) Exceptional Parent - August 2009 - New Products (Page 16) Exceptional Parent - August 2009 - 2009 Disability Awareness Night Schedule (Page 17) Exceptional Parent - August 2009 - 2009 Models of Excellence in the Healthcare Profession (Page 18) Exceptional Parent - August 2009 - 2009 Models of Excellence in the Healthcare Profession (Page 19) Exceptional Parent - August 2009 - Preterm Birth: How It Affected My Family (Page 20) Exceptional Parent - August 2009 - Preterm Birth: How It Affected My Family (Page 21) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 22) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 23) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 24) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 25) Exceptional Parent - August 2009 - Federal Program Encourages Health Service Innovations on Developmental Disabilities (Page 26) Exceptional Parent - August 2009 - Federal Program Encourages Health Service Innovations on Developmental Disabilities (Page 27) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 28) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 29) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 30) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 31) Exceptional Parent - August 2009 - Sitting on top of the World: One Physician's Journey to Success (Page 32) Exceptional Parent - August 2009 - Sitting on top of the World: One Physician's Journey to Success (Page 33) Exceptional Parent - August 2009 - Raising a Noonan Syndrome Child (Page 34) Exceptional Parent - August 2009 - Raising a Noonan Syndrome Child (Page 35) Exceptional Parent - August 2009 - When We Found Out Our Daughter Had CMT (Page 36) Exceptional Parent - August 2009 - When We Found Out Our Daughter Had CMT (Page 37) Exceptional Parent - August 2009 - August is Spinal Muscular Atrophy Awareness Month! (Page 38) Exceptional Parent - August 2009 - Newborn Screening Saves Babies, One Foot at a Time (Page 39) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 40) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 41) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 42) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 43) Exceptional Parent - August 2009 - Evidence Based Humanity Must Be Part of the Equation (Page 44) Exceptional Parent - August 2009 - Evidence Based Humanity Must Be Part of the Equation (Page 45) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 46) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 47) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 48) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 49) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 50) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 51) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 52) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 53) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 54) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 55) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 56) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 57) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 58) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 59) Exceptional Parent - August 2009 - EP Bookstore (Page 60) Exceptional Parent - August 2009 - EP Bookstore (Page 61) Exceptional Parent - August 2009 - Special Needs Alliance (Page 62) Exceptional Parent - August 2009 - Special Needs Alliance (Page 63) Exceptional Parent - August 2009 - Specialcare (Page 64) Exceptional Parent - August 2009 - Specialcare (Page 65) Exceptional Parent - August 2009 - Specialcare (Page 66) Exceptional Parent - August 2009 - Specialcare (Page 67) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 68) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 69) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 70) Exceptional Parent - August 2009 - Organizational Spotlight (Page 71) Exceptional Parent - August 2009 - Organizational Spotlight (Page 72) Exceptional Parent - August 2009 - Organizational Spotlight (Page 73) Exceptional Parent - August 2009 - Living with a Disability (Page 74) Exceptional Parent - August 2009 - Living with a Disability (Page Cover3) Exceptional Parent - August 2009 - Living with a Disability (Page Cover4) http://www.eparentdigital.com/nxtbooks/exceptionalparent/201009 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201008 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201007 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201006 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201005 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201004 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201003 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201002 http://www.eparentdigital.com/nxtbooks/exceptionalparent/2010rg http://www.eparentdigital.com/nxtbooks/exceptionalparent/200912 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200911 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200910 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200909 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200908 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200907 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200906 http://www.nxtbookMEDIA.com
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