41. Health Information Resource Database: Families Of Spinal Muscular Atrophy Families of spinal muscular atrophy. Contact Information. spinal muscular atrophyis a group of diseases which affect all age groups, from newborns to adults. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2292

42. About Spinal Muscular Atrophy (SMA) This angel was with us for a limited engagment due to a rare neuromuscularkiller, spinal muscular atrophy (SMA). What is spinal muscular atrophy? http://www.smaangel.com/aboutsma.html

Facts About Spinal Muscular Atrophy (SMA) Reprinted from Muscular Dystrophy Association Major Scientific Research Breakthrough Announced Click Here for more Information 2nd Scientific Research Breakthrough Announced Click Here for more Information QUESTIONS AND ANSWERS What is spinal muscular atrophy? Spinal muscular atrophy is a term for a group of inherited neuromuscular diseases. All forms of the disease affect specialized nerve cells called motor neurons, which control the movement of voluntary muscles. SMA causes lower motor neurons in the base of the brain and the spinal cord to disintegrate, preventing them from delivering electrical and chemical signals that muscles depend on for normal function. Involuntary muscles, such as those that control bladder and bowel function, are not affected in SMA. Hearing and vision are not affected, and intelligence is normal or above average. Investigators have noted that children with SMA can have very high intelligence. What are the different forms of the disease?

43. Special Child: Disorder Zone Archives - Spinal Muscular Atrophy spinal muscular atrophy Madison Reed. Devon Stants. Kim Gallagher. Spinal MuscularAtrophy Type I that is not what I saw when I looked at my daughter. http://www.specialchild.com/archives/dz-023.html

Disorder Zone Archives Spinal Muscular Atrophy Madison Reed Devon Stants Introduction Spinal Muscular Atrophy (SMA) is a hereditary disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells found in the spinal cord. It is the second most common childhood neuromuscular disorder and is caused by a deletion or mutation on chromosome 5q. Muscle atrophy and weakness occur in the voluntary muscles that are used for walking, crawling, head and neck control, and swallowing. SMA is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene and both parents much each pass the SMA gene to the child (receiving one defective gene will not cause SMA). The likelihood of parents passing the gene on to their offspring and having an affected child is 25%, or a 1 in 4 chance. One in 40 people are carriers of SMA and the occurrence rate is estimated to be 1 in every 6,000 to 10,000 live births (with some forms more common than others). The first substantive descriptions of SMA occurred at the end of the 19 th century when Drs. Werdnig and Hoffman characterized the features of autosomal recessive SMA. Later, in 1950, Dr. Brandt reported 112 cases of progressive SMA and noted that an EMG and a muscle biopsy were useful in establishing a diagnosis. Then, in 1965, Drs. Kugelberg and Welander reported several patients with a later onset of SMA and a more prolonged course. Finally, in 1973, Dr. Pearn published a series of papers that were considered the most important documentation of the clinical, epidemiologic, and genetic

44. Spinal Muscular Atrophy spinal muscular atrophy is a form of muscular dystrophy that affects thecells of the spinal cord. spinal muscular atrophy. Creating Awareness, http://specialchildren.about.com/library/weekly/aa082101a.htm

zfp=-1 About Parenting Special Needs Search in this topic on About on the Web in Products Web Hosting Parenting Special Needs with Jody Swarbrick Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS We're in this Together RAD Forum "Support Center" Start a Support Group ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Spinal Muscular Atrophy Creating Awareness Join the Discussion "There are many forms of Muscular Dystrophy. With research, advanced treatments have created greater medical help for those impaired by MD. If you are touched by MD, please share with us. Knowledge is Empowerment." Related Resources Heroes Living With MD MD Resources Resources From Other Guides Biology Pediatrics Physical Therapy Rare/Orphan Diseases Elsewhere on the Web Family Village Families of SMA Jennifer Trust MDA of Australia ... MDA of USA Spinal Muscular Atrophy is the second most common form of Muscular Dystrophy. Awareness of this disease remains limited, despite the fact that one in 6,000 are born yearly with SMA. Spinal Muscular Atrophy affects the voluntary muscles due to a deficiency in the anterior horn cells which are located in the spinal cord. Motor activities along with swallowing and breathing may be affected. Individuals diagnosed with SMA have normal senses and feelings. It is further noted, that SMA does not impair intellect and social abilities. As in many diseases, SMA can range from mild to severe, and several forms exist.

45. 01-22: Canadian Scientists Make Spinal Muscular Atrophy Breakthrough January 22, 2003. Canadian Scientists Make spinal muscular atrophy Breakthrough. Cellsfrom people with spinal muscular atrophy contain few gems, or none at all. http://www.ottawahospital.on.ca/whats-new/news-releases/2003/01-22-03-e.shtml

What's New - Home Events News Release Archive Home ... News Release Archive January 22, 2003 Canadian Scientists Make Spinal Muscular Atrophy Breakthrough Study could lead to new therapy for devastating childhood disease OTTAWA, January 22, 2003 — Scientists at the Ottawa Health Research Institute have achieved a gene therapy breakthrough that could lead to the first effective treatment for spinal muscular atrophy the leading genetic killer of infants. Spinal muscular atrophy, or SMA, destroys nerve cells that control muscle movements such as crawling, walking, swallowing and breathing. The disease strikes one in every 6,000 live births. SMA is usually diagnosed in babies under 18 months old, but certain types of the disorder can appear in later life. Babies born with the disease usually die of paralysis and respiratory failure before their second birthday. SMA is caused by mutations in a gene that produces a crucial protein called survivor motor neuron, or SMN. Without sufficient amounts of this protein, nerve cells that control muscles and breathing degenerate and die. "Children born with the most severe form of the disease will never be able to sit up. They'll look floppy. They may not show any expression in their face because the cranial nerve that controls smiling might be affected," says Dr. Christine DiDonato, Senior Research Associate at the OHRI.

46. Spinal Muscular Atrophy Foundation What is spinal muscular atrophy? Type III Mild SMA (KugelbergWelander or Juvenilespinal muscular atrophy) Symptoms appear between two and 17 years of age. http://www.smafoundation.org/faq.htm

47. Spinal Muscular Atrophy Foundation - SMA Information on spinal muscular atrophy (SMA), and the latest updates in research,treatment and funding. 2003 spinal muscular atrophy Foundation. http://www.smafoundation.org/

The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment or a cure for SMA, the number one genetic killer of infants and toddlers. The Foundation is dedicated to preventing the death and suffering of thousands of children whose lives depend upon increasing research funding to fulfill the scientific opportunity to cure the disease. The SMA Foundation is launching a two-week ad campaign in top Capital Hill publications to raise awareness for SMA and increase federal funding to help speed the realization of a treatment or cure. The ads will first appear in Roll Call and Congress DailyAM on March 31. To view the ads click the thumbnails below. SMA: DEADLY, COMMON AND UNKNOWN Though virtually unknown to the general public, Spinal Muscular Atrophy (SMA) is a deadly and relatively common genetic children's disease. It is the leading genetic killer of infants and toddlers, and even in less severe cases, causes tremendous suffering and eventual death. Over 25,000 Americans have the disease. Up to 1,000 new babies - an estimated one in every 6,000 live births - are afflicted with SMA each year. One in 40 people (approximately 7 million Americans) carry the gene that causes SMA.

48. Spinal Muscular Atrophy - Lucile Packard Children's Hospital Neurological Disorders. spinal muscular atrophy What is spinal muscularatrophy (SMA)? Spinal What causes spinal muscular atrophy? SMA http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/neuro/sma.html

Electroencephalography (EEG) Laboratory Motion and Gait Analysis Laboratory Movement Disorders Neurology ... Neurological Disorders Neurological Disorders Spinal Muscular Atrophy What is spinal muscular atrophy (SMA)? Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Childhood onset occurs in one in 10,000 live births. The adult onset form occurs in one in 100,000 people. What causes spinal muscular atrophy? SMA is an autosomal recessive disease. This means that both males and females are equally affected, and that two copies of the gene, one inherited from each parent, are necessary to have the condition. A gene called survival motor neuron (or SMN) is found to have an abnormal area (called a deletion) in over 95 percent of cases of SMA. Symptomatic individuals of all ages can be tested through DNA studies typically done from a blood sample. When both parents are carriers, there is a one in four, or 25 percent, chance, with each pregnancy, to have a child with SMA. Carrier testing for the general population is technically difficult and usually available only if a previously affected child in the family has been studied.

49. The DRM WebWatcher: Spinal Muscular Atrophy (SMA) A Disability Resources Monthly guide to the best online resourcesabout spinal muscular atrophy (SMA). http://www.disabilityresources.org/SMA.html

Home WebWatcher Regional Librarians ... Contact Us The DRM WebWatcher Spinal Muscular Atrophy (SMA) Updated 6/17/2001 A B C D ... About/Hint/Link Spinal muscular atrophy (SMA) is a genetic, motor neuron disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells of the spinal cord. There are various forms of SMA, including Werdnig-Hoffman Disease, Kugelberg-Welander Disease and Kennedy Disease. Here are some good resources about SMA. Andrew's Buddies (fightsma.com) Andrew's Buddies is "a national organization committed to accelerating a cure for spinal muscular atrophy (SMA)." The organization funds SMA genetic work, the identification of promising compounds for SMA treatment, and the development of strategies to increase the production of the missing protein in SMA. Its website provides a good explanation of the genetics of SMA as well as current research news. Facts About Spinal Muscular Atrophy (SMA) This brochure from the Muscular Dystrophy Association (U.S.) addresses frequently asked questions about SMA as well as the role of the Association in finding a treatment or cure. Families of SMA Home Page Families of SMA is a nonprofit organization that raises funds to promote research into the causes and cure of SMA and supports families affected by SMA. Its website is packed with information and resources about SMA, research news, message boards, a kids' section, and much more.

50. Spinal Muscular Atrophy - Pediatrics spinal muscular atrophy. Dateline 07/10/99. spinal muscular atrophy(SMA) is a very rare genetic syndrome. Not to be confused http://pediatrics.about.com/library/weekly/aa071099.htm

zfp=-1 About Pediatrics Search in this topic on About on the Web in Products Web Hosting Pediatrics with Vincent Iannelli, M.D. Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS 2003 Immunization Schedule Polls and Quizzes Growth Charts ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Spinal Muscular Atrophy Dateline: 07/10/99 Spinal Muscular Atrophy (SMA) is a very rare genetic syndrome. Not to be confused with muscular dystrophy....although they are both neuro muscular diseases of childhood... SMA affects cells in the spinal cord which in turn causes muscles to become weak and ineffective. Diagnosis is made by muscle biopsy. Although the disease progresses and there is no known cure, the exact course of SMA is very different in each child. It will be best to connect parents with current information, medical and supportive resources that can assist them in understanding the disease and how to care for their child. There are several classifications of SMA, of which the ages, signs and symptoms may overlap.

51. Research Projects - Spinal Muscular Atrophy spinal muscular atrophy What Is spinal muscular atrophy? Spinal MuscularAtrophy spinal muscular atrophy Research Roster. The Spinal Muscular http://www.iupui.edu/~medgen/research/sma/spinal_muscular_atrophy.html

Spinal Muscular Atrophy What Is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a disease of the anterior horn cells. Anterior horn cells are located in the spinal cord. SMA effects the voluntary muscles for activities such as crawling, walking, head and neck control and swallowing. It mainly affects the proximal muscles, or in other words, the muscles closest to the point of origin, in this case those closest to the trunk of one's body. Weakness in the legs is generally greater than weakness in the arms. Some abnormal movements of the tongue, called tongue fasciculations may be present in patients with Type I and some patients with Type II. The senses/feelings are normal as is intellectual activity. In fact it is often observed that patients with SMA are unusually bright and sociable. Spinal Muscular Atrophy Research Roster The Spinal Muscular Atrophy (SMA) Research Roster was established in July 1986 at Indiana University in response to a recommendation from the support organization, Families of SMA. The SMA roster is completely funded by this support organization. This roster provides an important means of communication between investigators who are interested in SMA research and families who are interested in furthering this research. Investigators who are interested in SMA research need access to information concerning SMA patients and families. It is important to establish a system whereby scientists and SMA families can get in touch with each other. The SMA roster makes this happen by collecting and maintaining information on SMA patients and families.

52. Healthfinder® — Families Of Spinal Muscular Atrophy - SMA Families of spinal muscular atrophy was founded to support families with memberssuffering from the condition and to promote research into treatments for http://www.healthfinder.gov/orgs/HR2292.htm

health library just for you health care organizations search: help Families of Spinal Muscular Atrophy - SMA organization URL(s) sma@fsma.org www.fsma.org other contact information P.O. Box 196 Libertyville, IL 60048-0196 800-886-1762 (Voice - Toll-free) 847-367-7620 (Voice) 847-367-7623 (FAX) description Families of Spinal Muscular Atrophy was founded to support families with members suffering from the condition and to promote research into treatments for spinal muscular atrophy (SMA). Spinal muscular atrophy is a group of diseases which affect all age groups, from newborns to adults. The diseases included under spinal muscular atrophy are: Infantile Progressive Spinal Muscular Atrophy (Werdnig-Hoffmann Disease), Juvenile Progressive Spinal Muscular Atrophy (Kugelberg-Welander Disease), and Adult Progressive Spinal Muscular Atrophy (Aran-Duchenne Type). online resources Understanding Spinal Muscular Atrophy: A Comprehensive Guide http://www.fsma.org/booklet.htm print resources Informational brochures dealing with the spinal muscular atrophies and a videotape "Living with SMA" are available. Serial publication: "Direction" (newsletter), quarterlynews on new equipment and physical therapy exercises, family profiles, coping tips, and research update; "Understanding Spinal Muscular Atrophyavailable at no cost, English, Spanish and French.

53. HealthlinkUSA Spinal Muscular Atrophy Links the treatment process. FindWhat. Click here for page 1 of SpinalMuscular Atrophy information from the HealthlinkUSA directory. http://www.healthlinkusa.com/291ent.htm

54. Spinal Muscular Atrophy; Treatment, Prevention, Cure spinal muscular atrophySearch information from many of the best SpinalMuscular Atrophy health sites. Quickly find information treatments http://www.healthlinkusa.com/content/291.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Monday March 31, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

55. ICan ONLINE - Spinal Muscular Atrophy: Description And Causes and causes. Families of Spinal MuscularAtrophy February 7, 2002 There are five types of spinal muscular atrophy...... spinal muscular atrophy http://www.ican.com/news/fullpage.cfm/articleid/D0F5EC97-AE4A-4ED2-B6667F179C450

Health news Stay healthy Supplements Manage depression ... Health FAQ CHANNELS Home Automotive Employment Independence ... Travel RESOURCES Conditions Library Message board Feedback Events ... Search iCan! THE LEADING DISABILITY COMMUNITY AOL KEYWORD: iCan iCan! BUSINESS RESOURCES Corporate Services Buy The Heidi Report Free Services Home ... Conditions library Spinal muscular atrophy: Description and causes Families of Spinal Muscular Atrophy February 7, 2002 Spinal muscular atrophy 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. The condition is a disease of the anterior horn cells. Anterior horn cells are located in the spinal cord. There are five types of spinal muscular atrophy: Type I Acute (Severe): Type I SMA is also called Werdnig-Hoffmann disease. The diagnosis of children with this type is usually made before 6 months of age and in the majority of cases before 3 months. There may be lack of fetal movement in the final months of pregnancy. Type II (Chronic): Diagnosis of Type II is almost always made before 2 years of age with the majority of cases diagnosed by 15 months. Children with this type may sit unsupported although they are usually unable to come to a sitting position without assistance. At some point they may be able to stand. This is most often accomplished with the aid of bracing or parapodium/standing frame.

56. Dorlands Medical Dictionary Cruveilhier's atrophy, spinal muscular a. myelopathic muscular atrophy, muscularatrophy due to lesion of the spinal cord, as in spinal muscular atrophy. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

57. Sam Turner Appeal - Spinal Muscular Atrophy Links Page The Sam Turner Appeal web site is dedicated to helping Sam turner and his familycope with his spinal muscular atrophy. What is spinal muscular atrophy (SMA)? http://www.samturnerappeal.co.uk/spinal_muscular_atrophy_links.asp

Useful Links: The Jennifer Trust for SMA Lucile Packards Children's Hospital What is spinal muscular atrophy (SMA)? Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Childhood onset occurs in one in 10,000 live births. The adult onset form occurs in one in 100,000 people. What causes spinal muscular atrophy? SMA is an autosomal recessive disease. This means that both males and females are equally affected, and that two copies of the gene, one inherited from each parent, are necessary to have the condition. A gene called survival motor neuron (or SMN) is found to have an abnormal area (called a deletion) in over 95 percent of cases of SMA. Symptomatic individuals of all ages can be tested through DNA studies typically done from a blood sample. When both parents are carriers, there is a one in four, or 25 percent, chance, with each pregnancy, to have a child with SMA. Carrier testing for the general population is technically difficult and usually available only if a previously affected child in the family has been studied. What are the symptoms of spinal muscular atrophy?

58. GeneReviews: Spinal Muscular Atrophy Overview of SMA, its genetics, clinical presentation and testing. It is written by experts in SMA Category Health Conditions and Diseases spinal muscular atrophy......Your browser does not support HTML frames so you must view spinal muscular atrophyin a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/sma/

Your browser does not support HTML frames so you must view Spinal Muscular Atrophy in a slightly less readable form. Please follow this link to do so.

59. International Alliance For Spinal Muscular Atrophy http://www.iasma.net/

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60. Hereditary Motor Syndromes Provides detailed medical/genetic information for a variety of neuromuscular disorders. Primarily Category Health Conditions and Diseases spinal muscular atrophy...... spinal muscular atrophy 5q. Bulbospinal muscular atrophy (Kennedy's Syndrome;X-linked). l Increased CAG repeats in Androgen Receptor ; Xq12; Recessive http://www.neuro.wustl.edu/neuromuscular/synmot.html

Front Search Index Links ... Patient Info HEREDITARY MOTOR SYNDROMES (SMA, ALS + ...) ALS Childhood-onset ALS : Alsin; 2q33; Recessive : 9q34; Dominant : 15q15; Recessive Other (Type 2) Hereditary Dominant Recessive ... Brown-Vialetto-van Laere : Recessive BSMA: Dominant Bulbar ALS Fazio-Londe : Recessive or Dominant Kennedy's Syndrome (BSMA): Androgen Receptor; Xq12 PLS, Juvenile : Alsin; 2q33; Recessive Worster-Drought Multisystem disorders AAA syndrome : Dominant DDPAC : MAPT; 17q21; Dominant Hexosaminidase A b -Hexosaminidase A; 15q23; Recessive Machado-Joseph : Ataxin-3; 14q32; Dominant Mitochondrial: Polyglucosan body disease Also see Monomelic amyotrophy : Sporadic Mouse models Spinal muscular atrophy (SMA) : Types SMA : SMN 5q; Recessive Congenital with arthrogryposis Werdnig-Hoffmann Kugelberg-Welander Recessive SMA: Other Spinal muscular atrophy 2 SMA + Congenital fractures SMA + Pontocerebellar hypoplasia X-linked SMA Bulbo-SMA (Kennedy's) : Androgen Receptor; Xq12 : Xp11; Recessive Dominant, Proximal SMA Benign congenital with contractures Bulbo-SMA Autosomal Dominant Congenital with leg weakness : 12q23; Dominant HMSN-P (Okinawa type) : 3q13; Dominant

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