21. SMA Angels.com | "In Loving Memory Of Our Children Who Have Passed Away From SMA A place for people to find support for spinal muscular atrophy (SMA) / WerdnigHoffman. http://www.smaangels.com

Enter Site Here (Return Visit? Click here to skip the intro screen.) "SMA Angels.com is the internet's first online memorial remembering the loved ones that we have lost from the genetic disease, Spinal Muscular Atrophy." Site by Clancy Creations Web Design. This site is best viewed with IE at 800x600 screen resolution. AOL members please click here for proper viewing tips.

22. NINDS Spinal Muscular Atrophy Information Page spinal muscular atrophy (SMA) information page compiled by the NationalInstitute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/health_and_medical/disorders/sma.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Spinal Muscular Atrophy Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Spinal Muscular Atrophy Information Page Synonym(s): Werdnig-Hoffman Disease, Kugelberg-Welander Disease Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Spinal Muscular Atrophy? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Spinal Muscular Atrophy? 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. The disorder causes weakness and atrophy of the voluntary muscles. Weakness is often more severe in the legs than in the arms. There are many types of SMA; some of the more common types are described below. SMA type I , also called Werdnig-Hoffmann disease , is evident in utero or within the first few months of life. There may be a paucity of fetal movement in the final months of pregnancy. Symptoms may include hypotonia (floppiness of the limbs and trunk), diminished limb movements, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before the age of 2.

23. Untitled Document Canadian Chapter of Andrew's Buddies, fighting spinal muscular atrophy SMA. http://www.fightsma.ca/

YOU ARE VISITOR SINCE FEBRUARY 10, 2003 Tori's Buddies is a Registered Canadian Charity (#865119499RR0001) dedicated to the international fight against Spinal Muscular Atrophy , the number one inherited cause of death among children under the age of two. Our website will keep you up to date on all the latest breakthroughs in treatment of children and adults afflicted with SMA, events being held to raise money for research and a chance to meet Tori and her Buddies. We thank you for taking time to visit our site and hope that we will see you at our next big event. The link below the newsflashes will take you to our main site. CENTURY 21 PERCY FULTON LTD. AND TORI'S BUDDIES COME UP WITH NEW WAY TO DONATE!!!! Visit our Press Releases page to find out how you can help Tori's buddies the next time you buy a house! 4th ANNUAL FIGHT SMA WITH TORI'S BUDDIES BENEFIT AND SILENT AUCTION A HUGE SUCCESS! The 4th annual Fight SMA with Tori's Buddies Benefit and Silent Auction was a HUGE success this year raising a whopping $70,000.

24. WebRing: Hub About this Ring. The spinal muscular atrophy (SMA) Webring allows individualsand families affected by SMA to join there homepages together. http://p.webring.com/hub?ring=smatrophy&list

25. Nouvelle Page 1 A personal story of a family with a son Theo, suffering from spinal muscular atrophy. Site also in French. http://www.mysunrise.ch/users/af.mast/

Ce site est consacré à l'histoire de notre petit Theo qui était atteint d'une terrible maladie génétique ... This website is dedicated to our little Theo who was suffering from a terrible genetic disease ... Voici quelques liens vers des sites qui vous informerons plus précisément sur l'amyotrophie spinale infantile ou maladie de Werdnig-Hoffmann : Here are some links to websites that will give some more information about spinal muscular atrophy or Werdnig-Hoffmann's disease : http://http://www.fsma.org/ http://maruja.sener.free.fr/myonet/index.html http://www.our-sma-angels.com mailto:af.mast@mydiax.ch Vous êtes le visiteur no / You are visitor nr :

26. SPINAL MUSCULAR ATROPHY spinal muscular atrophy. The Intermediate Form . A Brochure For Parents and Caregiversspinal muscular atrophy (SMA) is one of the neuromuscular diseases. http://www.mda.org.au/specific/mdasma.html

FACT SHEET Spinal Muscular Atrophy "The Intermediate Form" A Brochure For Parents and Caregivers Spinal Muscular Atrophy (SMA) is one of the neuromuscular diseases. Muscles weaken and waste away (atrophy) due to degeneration of motor neurones which are nerve cells in the spinal cord. Normally, these motor neurones relay signals, which they receive from the brain, to the muscle cells. When these neurones fail to function, the muscles deteriorate. The brain and the sensory nerves (that allow us to feel sensations such as touch, temperature, pain etc.) are not affected. Intelligence is normal. From the description just given it can be seen why the condition is called Spinal Muscular Atrophy - the muscles atrophy because of a problem in the nerve cells in the spine. What are the common types of SMA? In general we can distinguish three common types of SMA in childhood : Type 1 Severe Infantile SMA, or Werdnig-Hoffmann disease Type 2 Intermediate type Type 3 Mild Juvenile SMA, or Kugelberg-Welander disease

27. Www.abacus96.com/fsma/home.htm Similar pages www.abacus96.com/fsma/ Similar pages More results from www.abacus96.com MEDLINEplus spinal muscular atrophy Topics. spinal muscular atrophy. Contents Organizations. Search MEDLINEfor recent research articles on • spinal muscular atrophy. You http://www.abacus96.com/fsma/home.htm

28. MEDLINEplus Medical Encyclopedia: Spinal Muscular Atrophy spinal muscular atrophy. Causes, incidence, and risk factors Return to top. Spinalmuscular atrophy (SMA) is the second leading cause of neuromuscular disease. http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Spinal muscular atrophy Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Superficial anterior muscles Alternative names Return to top Werdnig-Hoffmann disease Definition Return to top A group of inherited diseases that cause progressive muscle degeneration and weakness , eventually leading to death. Causes, incidence, and risk factors Return to top Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is inherited as an autosomal recessive trait (a person needs to get the defective gene from both parents to be affected) and has an incidence of approximately 4 per 100,000 people. In its most severe form (SMA I), infants are born floppy with weak, thin muscles and feeding and breathing problems . Their lifespan seldom exceeds 2 to 3 years. Infants with SMA II have less severe symptoms during early infancy, but they become progressively weaker with time. Survival time with type II is longer, but the disease kills most of those affected while they are still children. SMA III is the least severe form of the disease, and symptoms may not appear until the second year of life. Often

29. SPINAL MUSCULAR ATROPHY - INTERMEDIATE FORM Pediatric Database (PEDBASE); Discipline CNS; Last Updated 5/16/96 SPINALMUSCULAR ATROPHY INTERMEDIATE FORM. DEFINITION A neurological http://www.icondata.com/health/pedbase/files/SPINALMU.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/16/96 SPINAL MUSCULAR ATROPHY - INTERMEDIATE FORM DEFINITION: A neurological disorder characterized by degeneration of the anterior horn cells of the spinal cord resulting in lower limb proximal muscle weakness. EPIDEMIOLOGY: incidence: ? age of onset: 6-24 months of age risk factors: familial - autosomal recessive chrom.#: 5 gene: neuronal apoptotic inhibitor protein (NAIP) M = F PATHOGENESIS: 1. Background the Spinal Muscular Atrophies (SMA) are a group of inherited disorders in which there is degeneration of the anterior horn cells in the spinal column resulting in weakness there are 3 clinical variants based on varying degrees of severity and onset: Type I - Infantile Type - Werdnig-Hoffmann Disease (Severe) Type II - Intermediate Form (Intermediate) Type III - Juvenile Type - Kugel-Welander Disease (Mild) SMA may be a polygenic disorder as a second gene has been identified adjacent to the NAIP gene of chromosome 5 and it is hypothesized that the protein products of these two genes interact to form a neuronal apoptotic factor; therefore a mutation in either gene may cause the disease apoptosis means programmed natural cell death and NAIP may act as an inhibitor of programmed neuronal cell death 2. Genetic Defect

30. EMedicine - Spinal Muscular Atrophy : Article By Bryan Tsao, MD spinal muscular atrophy The spinal muscular atrophies (SMAs) are a clinicallyand genetically heterogeneous group of disorders. spinal muscular atrophy. http://www.emedicine.com/neuro/topic631.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Spinal Muscular Atrophy Last Updated: December 7, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: bulbospinal muscular atrophy, Davidenkow syndrome, Fazio-Londe disease, hereditary motor neuronopathy, Kennedy syndrome, progressive muscular atrophy, Vialetto-van Laere syndrome AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Bryan Tsao, MD , Clinical Associate, Department of Neurology, Section of Neuromuscular Disorders, The Cleveland Clinic Foundation Coauthor(s): Carmel Armon, MD , ALS Multidisciplinary Clinic Director, Professor, Department of Neurology, Loma Linda University School of Medicine Bryan Tsao, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): Robert Baumann, MD

31. EMedicine - Kugelberg Welander Spinal Muscular Atrophy : Article By Mary Louise Kugelberg Welander spinal muscular atrophy Kugelberg Welander spinal muscularatrophy is a rare inherited disorder that causes progressive degeneration of http://www.emedicine.com/pmr/topic62.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Physical Medicine and Rehabilitation Disorders Of The Motor Unit Kugelberg Welander Spinal Muscular Atrophy Last Updated: February 13, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: juvenile types III and IV spinal muscular atrophy, Wohlfart-Kugelberg-Welander syndrome, mild spinal muscular atrophy, adult onset spinal muscular atrophy AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Mary Louise Caire, MD , Staff Physician, Department of Physical Medicine and Rehabilitation, Parkland Hospital, UT Southwestern, Dallas Coauthor(s): Stephen Kishner, MD , Director of the Electromyography Laboratory, Louisiana Rehabilitation Institute; Associate Professor, Department of Medicine, Section of Physical Medicine and Rehabilitation, Louisiana State University School of Medicine Mary Louise Caire, MD, is a member of the following medical societies:

32. Spinal Muscular Atrophy spinal muscular atrophy. 2nd most common autosomal recessive diseasein Caucasians pathology degeneration of the spinal anterior http://chorus.rad.mcw.edu/doc/02038.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search spinal muscular atrophy 2nd most common autosomal recessive disease in Caucasians pathology degeneration of the spinal anterior horn cells atrophy and wasting of skeletal muscles types SMA I = Werdnig-Hoffman disease: rapidly progressive SMA II = intermediate form SMA III = Kugelberg-Welander disease: slowly progressive uncommon adult forms usual presentations floppy baby arthrogryposis muscle weakness in infancy diagnosis weakness and wasting with areflexia electrophysiology shows anterior horm cell disease genetics linked to chromosome 5q. neuronal apoptosis inhibitory protein (NAIP) gene survival motor neuron (SMN) gene James Lowe, DM BM BS MRCPath - 13 November 1997 Last updated 14 March 2001 Medical College of Wisconsin

33. Advanced Respiratory - Spinal Muscular Atrophy , Reimbursed by more than 1,100 health plans nationwide. Spinal MuscularAtrophy, Print Version. al. Pulmonary function in spinal muscular atrophy. http://www.abivest.com/conditions/sma/?gs=patients

34. Spinal Muscular Atrophy The SMA gene maps to 5q11.2q13.3 and all three types of autosomal recessive childhoodonset proximal spinal muscular atrophy have been localised to this region http://cmgs.org/BPG/Guidelines/1st_ed/sma.htm

Workshops 1993, 1995 Guidelines prepared by Fiona McDonald The SMA gene maps to 5q11.2-q13.3 and all three types of autosomal recessive childhood onset proximal spinal muscular atrophy have been localised to this region. Prenatal diagnosis of SMA has depended up until now on the use of linked markers in this region. Three candidate genes have recently been reported in this region and homozygous deletions of all three have been found in SMA patients. The survival motor neuron gene (SMN) is present in at least two copies, SMN (telomeric: SMNT) and a highly homologous copy, cBCD541 (centromeric, pseudogene). Single base differences in exons 7 and 8 allow these two genes to be differentiated on SSCP gels (Lefebvre et al , 1995) and by restriction enzyme digestion (van der Steege etal, 1995). Exons 7 and 8 or exon 7 alone of SMN have been found to be deleted in 90-98% of cases of SMA (one report found approx. 82% of type III SMA deleted for SMN, Hahnen et al ,1995)) but there is no correlation between disease severity and phenotype (Rodrigues et al , 1995). In the original report by Lefebvre

35. Disorder Information - INTRODUCTION TO SPINAL MUSCULAR ATROPHY INTRODUCTION TO spinal muscular atrophy. The information in this sectionis a comprehensive overview, explantion and definition of http://www.mdac.ca/english/disorder-info/disorder-info-09.htm

INTRODUCTION TO SPINAL MUSCULAR ATROPHY The information in this section is a comprehensive overview, explantion and definition of spinal muscular atrophy disorders. If you wish to browse the document offline, click here to download the entire document in Word 6.0 or ASCII text format Defining SMA Forms of Childhood-Onset SMA Forms of Adult-Onset SMA ... What is the MDAC? What is spinal muscle atrophy? Spinal muscular atrophy (SMA) is the name given to a group of inherited diseases characterized by muscle wasting and weakness. SMA affects nerve cells (called motor neurons) which stimulate and control voluntary muscles, causing them to die off. Due to the loss of motor neurons, the spinal cord is unable to deliver signals to the muscles, preventing their normal function and leading to their atrophy (wasting away). What muscles are primarily affected in SMA?

36. The Contact A Family Directory - SPINAL MUSCULAR ATROPHY printer friendly, spinal muscular atrophy, JENNIFER TRUST FOR SPINALMUSCULAR ATROPHY. Jennifer Trust for spinal muscular atrophy Elta http://www.cafamily.org.uk/Direct/s48.html

printer friendly SPINAL MUSCULAR ATROPHY home more about us in your area conditions information ... how you can help search this site Spinal Muscular Atrophies (SMA) in children are a group of three inheritable neuromuscular conditions of varying severity in which there is degeneration of the anterior horn cells of the spinal cord with resultant muscular weakness, usually symmetrical. Characteristically, the legs are more severely affected than the arms. Additionally the proximal muscles are more severely affected than the distal ones. Distinct clinical syndromes can be defined on the basis of the severity of the symptoms displayed. An international classification was agreed in Summer 1990 as follows: Severe SMA - unable to sit unsupported (also known as Werdnig-Hoffmann disease or Type 1) Intermediate SMA - able to sit unsupported, unable to stand or walk unaided (also known as Type 2) Mild SMA - able to stand and walk unaided (also known as Kugelberg-Welander disease or Type 3) Inheritance patterns Autosomal recessive inheritance Pre-natal diagnosis The gene for all childhood onset Spinal Muscular Atrophies which maps to chromosome 5, has been identified and named the survival motor neurone (SMN) gene. Deletions in the gene are present in almost all cases, particularly Type 1 and 2, and also provide an accurate means of pre-natal diagnosis by chorionic villus sampling at ten to twelve weeks.

37. Spinal Muscular Atrophy LocusLink collection of generelated information OMIM catalog of human genesand disorders Information Families of spinal muscular atrophy a nonprofit http://www.ncbi.nlm.nih.gov/disease/SMA.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome 5 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Families of Spinal Muscular Atrophy a nonprofit organization that raises funds for SMA research and supports families affected by SMA DEATH OF SPINAL MOTOR NEURONS and subsequent muscle paralysis characterize Spinal Muscular Atrophy (SMA), a hereditary neuromuscular disorder that is the most common genetic cause of childhood fatality. The age of onset and severity of SMA varies from an infantile onset form (type I) which causes early death from respiratory failure, to milder juvenile onset forms in which affected individuals show reduced life expectancy (type II), and are unable to walk (types II and III). The function of SMN1 is currently being investigated by studies in rats and transgenic mice. It is hoped that the characterization of this protein and its function will eventually lead to a therapy that may be used in conjunction with genetic testing already in place to help control the incidence and/or severity of SMA.

38. Carrier Testing Now Available For Spinal Muscular Atrophy Carrier Testing Now Available For spinal muscular atrophy COLUMBUS, Ohio, June 2,1997 A recent medical breakthrough will enable medical professionals to http://www.pslgroup.com/dg/2a9a6.htm

39. Spinal Muscular Atrophy spinal muscular atrophy. Families of SMA (spinal muscular atrophy) PO Box 196Libertyville, IL 600480196 Phone 800. 886.1762 or 847.367.7620 Fax 708. http://www.kumc.edu/gec/support/spinal_m.html

Spinal Muscular Atrophy (SMA, Werdnig-Hoffman, Kugelberg-Welander, Kennedy) Families of SMA (Spinal Muscular Atrophy) P.O. Box 196 Libertyville, IL 60048-0196 Phone: 800. 886.1762 or 847.367.7620 Fax: 708. 432.5551 Web page: http://www.fsma.org/ E-mail: sma@interaccess.com Other SMA links Open Letter to Parents of Newly Diagnosed Children Understanding SMA Also See: National organizations , resources on genetic conditions or birth defects Muscular dystrophy / atrophy resources Muscular Dystrophy Association , Canada Neuromuscular Diseases in the MDA Program , Muscular Dystrophy Association SMA Angels Spinal Muscular Atrophy, Werdnig-Hoffmann Disease SMA mini-fact sheet National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, July 2001 Spinal Muscular Atrophy , GeneClinics Spinal Muscular Atrophy , Muscular Dystrophy Association, Australia Spinal Muscular Atrophy , Vanderbilt Medical Center Spinal Muscular Atrophy I I , (SMA1), OMIM, Online Mendelian Inheritance in Man Spinal Muscular Atrophy Werdnig Hoffman , Pediatric Database Spinal Muscular dystrophy: the Ins and Outs , slide lecture, D Leonard, University of Pennsylvania Health System, Philadelphia, Jan 2000 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

40. Spinal Muscular Atrophy spinal muscular atrophy. Vanderbilt Medical University. spinal muscular atrophyOrganizations and Support. Families of spinal muscular atrophy. http://www.naotd.org/sma.htm

SPINAL MUSCULAR ATROPHY Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder of childhood, less common only than Duchenne's muscular dystrophy. It is characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei of the brainstem, causing weakness. There are many forms of the disorder, which may affect specific muscle groups or be generalized and may manifest anywhere from in utero to adulthood. Most forms are genetic. Inheritance pattern may be autosomal recessive (most), autosomal dominant, X-linked, or new mutation. The gene or genes involved in SMA has been localized to chromosome 5q; the identity of the gene product and pathogenesis are areas of intense study. Prenatal diagnosis in known affected families is also under investigation. Interestingly, the clinical features may vary significantly within a given family; the reasons for this are not clear. The incidence is approximately 1:25,000 for SMA in general,with some forms more common than others. Vanderbilt Medical University Spinal Muscular Atrophy- Organizations and Support Families of Spinal Muscular Atrophy Return to Home page Site Map Contact NAOTD

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