61. SPINAL MUSCULAR ATROPHY : Contact A Family - For Families With Disabled Children Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/s48.html

printer friendly SPINAL MUSCULAR ATROPHY home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Spinal Muscular Atrophies (SMA) in children are a group of three inheritable neuro-muscular conditions of varying severity in which there is degeneration of the anterior horn cells of the spinal cord with resultant muscular weakness, usually symmetrical. Character-istically, the legs are more severely affected than the arms. Additionally the proximal muscles (those closer to the body) are more severely affected than the distal ones (those closer to the hands and feet). 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 Prenatal 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. Mutations in the gene are present in almost all cases, particularly Type 1 and 2, and also provide an accurate means of prenatal diagnosis by chorionic villus sampling during early pregnancy.

62. Spinal Muscular Atrophy - Lucile Packard Children's Hospital spinal muscular atrophy is a rare degenerative problem that affects the spinal There are four types of spinal muscular atrophy based on symptoms and age http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/neuro/sma.html

Electroencephalography (EEG) Laboratory Motion and Gait Analysis Laboratory Movement Disorders Neurology ... Stanford, Lucile Packard Researchers Uncover Mystery Behind How Skull Plates Fuse Neurological Disorders Spinal Muscular Atrophy What is spinal muscular atrophy (SMA)? Spinal muscular atrophy is a rare degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. 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?

63. OHRI spinal muscular atrophy and Muscular Dystrophy. Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are diseases of the muscle and of the http://www.ohri.ca/centres/SpinalMuscularAtrophyandMuscularDystrophy/default.asp

Friday, September 09, 2005 AIDS Cancer Decision Aids Emergency Medicine ... Vision Spinal Muscular Atrophy and Muscular Dystrophy Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are diseases of the muscle and of the nerve cells that carry signals from the brain to the muscle. Dr. Ronald Worton , Scientific Director of the OHRI, 15 years go discovered the gene that is defective in DMD children. Since then, he has recruited a team of dynamic scientists who are in a position to translate this discovery into effective treatments for muscular dystrophy and other neuromuscular diseases. OHRI scientists in the Neuromuscular Disease Research Group have developed mouse models of muscular dystrophy and SMA, have produced some of the world's best gene-therapy "vectors" - harmless viruses - to deliver genes to muscle in a safe and effective way and are developing novel therapeutic strategies for these disorders. Scientists in the Molecular Medicine Program Neuroscience Program

64. Spinal Muscular Atrophy spinal muscular atrophy Updated February 24, 2005 Nervous System Disorders Spinal Cord Disorders Specific Disorders spinal muscular atrophy http://www.noah-health.org/en/bns/disorders/sp_disorder/specific/atrophy.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Brain and Nervous System Change text size: Spinal Muscular Atrophy Updated: February 24, 2005 Carrier Testing Now Available For Spinal Muscular Atrophy Doctor's Guide Facts About Spinal Muscular Atrophy (SMA) Muscular Dystrophy Association Families of Spinal Muscular Atrophy MDA Finding Suggests "Backup" Gene Could Treat SMA: Rapid Search for Compounds Begins Using First Animal Model Muscular Dystrophy Association Quick Facts about Spinal Muscular Atrophy Families of Spinal Muscular Atrophy Spinal Muscular Atrophy Foundation Understanding Spinal Muscular Atrophy: A Comprehensive Guide Families of Spinal Muscular Atrophy Information Resources Muscular Dystrophy Association (also in Spanish Researched by NOAH Contributing Editor: Sharon Hunt, MLS, MedLibra NOAH Brain and Nervous System Specific Nervous System Disorders Spinal Cord Disorders ... Specific Disorders > Spinal Muscular Atrophy Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

65. Aran-Duchenne Spinal Muscular Atrophy (www.whonamedit.com) AranDuchenne spinal muscular atrophy Condition characterized by chronic progressive wasting of muscles with subsequent weakness and paralysis. http://www.whonamedit.com/synd.cfm/1879.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Aran-Duchenne spinal muscular atrophy Also known as: Cruveilhier's atrophy Cruveilhier's disease Cruveilhier's palsy Duchenne-Aran spinal muscular atrophy Duchenne-Aran syndrome Duchenne-Griesinger disease Griesinger’s disease I Synonyms: Amyotrophica nuclearis progressiva, distal spinal muscular atrophy, myelopathic muscular atrophy, progressive spinal muscular atrophy, wasting palsy. Associated persons: François-Amilcar Aran Léon Jean Baptiste Cruveilhier Guillaume Benjamin Amand Duchenne de Boulogne Wilhelm Griesinger Description: Condition characterized by chronic progressive wasting of muscles with subsequent weakness and paralysis. The upper extremity is most commonly involved. It begins as weakness of small muscles of the hand, followed by stiffness, clumsiness, and cramps. The muscles supplied by the fift cervical nerves and the extensor hallucis longus are the first ones to be affected. The principal clinical features include muscular fasciculation, simian hand (eventually becoming ”cadaveric hand”), round-shouldered posture, forward drop of the head, drop foot, steppage gait, and dyspnea.

66. Spinal Muscular Atrophy Links to articles, information, and resources for spinal muscular atrophy (SMA). http://rarediseases.about.com/cs/spinalmusatrophy/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Spinal muscular atrophy Guide picks Links to information and resources for spinal muscular atrophy (SMA). Families of Spinal Muscular Atrophy News, events, Kids' Corner, message boards, photo album, and feature articles. MDA Canada: Spinal Muscular Atrophy Brochure Online brochure from the Muscular Dystrophy Association of Canada. MDA USA: Adult Spinal Muscular Atrophy Information on the disease from the Muscular Dystrophy Association USA. MDA USA: Infantile Progressive SMA Information on infantile progressive spinal muscular atrophy, also known as SMA Type 1, Werdnig-Hoffman, from the Muscular Dystrophy Association USA. MDA USA: Intermediate SMA Information on intermediate spinal muscular atrophy, also known as SMA Type 2, from the Muscular Dystrophy Association USA. MDA USA: Juvenile SMA Information on juvenile spinal muscular atrophy, also known as SMA Type 3, Kugelberg-Welander, from the Muscular Dystrophy Association USA.

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

Home WebWatcher Regional Librarians ... Contact Us The DRM WebWatcher Spinal Muscular Atrophy (SMA) Updated 7/2004 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.

68. Welcome To NHS Direct Online spinal muscular atrophy (SMA) is a neuromuscular condition, which causes Type 1V describes spinal muscular atrophy which starts in adulthood, http://www.nhsdirect.nhs.uk/en.asp?TopicID=490

69. Welcome To NHS Direct Online Childhood spinal muscular atrophy is an autosomal recessive disease, spinal muscular atrophy in the older age group can occur, as mutations or autosomal http://www.nhsdirect.nhs.uk/en.asp?TopicID=490&AreaID=2419&LinkID=1825

70. Spinal Muscular Atrophy Families of spinal muscular atrophy Listings include definitions of the many Kayla - spinal muscular atrophy - Visit people affected by this little http://www.health-nexus.com/spinal_muscular_atrophy1.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Spinal Muscular Atrophy Families of Spinal Muscular Atrophy Listings include definitions of the many strains of the disease. Features extensive support-group information. ... to the web site of Families of Spinal Muscular Atrophy - a comprehensive, on-line information and resource center. ... Kayla - Spinal Muscular Atrophy Visit people affected by this little girl's fight against spinal muscular atrophy through personal accounts, photos and poems. SPINAL MUSCULAR ATROPHY SPINAL MUSCULAR ATROPHY 1. Introduction 2. Understanding Spinal Muscular Atrophy 3. Studies, Experimental ... neuromuscular disease called SMA (Spinal Muscular Atrophy). He was scheduled for a muscle ... Spinal Muscular Atrophy / Family Village Spinal Muscular Atrophy See Also: Muscular Dystrophy Who to Contact Where to ... Learn More About It Web Sites Search Google for "Spinal Muscular Atrophy" Who to Contact Families of S.M.A. (Spinal Muscular Atrophy ...

71. Neurological Disorders - Spinal Muscular Atrophy spinal muscular atrophy is a degenerative problem that affects the spinal cord spinal muscular atrophy occurs in approximately one in 6000 live births. http://www.musckids.com/health_library/neuro/sma.htm

Home About Us Departments Send an e-Card ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version 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. Spinal muscular atrophy occurs in approximately one in 6,000 live births. 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?

72. AmSMART American Spinal Muscular Atrophy Randomized Trials AMSMART American spinal muscular atrophy Randomized Trials. http://www.amsmart.org/

Advanced Search AmSMART Locations (click requires Acrobat Reader What is SMA? Spinal muscular atrophy (SMA) is a genetic disease of the anterior horn cell with a frequency of 8 per 100,000 live births with high mortality during infancy. There is no known treatment for SMA. Until recently, no therapeutic trials have been attempted and, then, only adult patients were included. The AmSMART group is an organization of 5 pediatric medical centers and the Academic Computer Services at UT Southwestern formed in order to perform clinical trials in children with SMA. Click for more... (requires Acrobat Reader Logon for Investigators Public Resources What is SMA? (requires Acrobat Reader NEW - AmSMART Enrolling Infants with SMA for Rilutek Drug Study (requires Acrobat Reader NEW - Get a free copy of the AmSMART Video AmSmart Investigators AmSMART Web Links Trademarks and pertinent addresses ... Clinical Trials AmSMART News Contact Information (requires Acrobat Reader Investigator Meeting More Pictures Page Maintained by: Alan Elliott Last update: Wednesday, September 07, 2005

73. Congenital SMA With Arthrogryposis,Progressive Spinobulbar spinal muscular atrophy (SMA) has plagued humanity for generations. spinal muscular atrophy (SMA) is a genetic, motor neuron disease characterized by http://www.icomm.ca/geneinfo/asma.htm

74. Spinal Muscular Atrophy - Health And Medical Information Produced By Doctors - M Doctorproduced health and medical information written for you to make informed decisions about your health concerns. http://www.medicinenet.com/script/main/art.asp?articlekey=23884

75. Spinal Muscular Atrophy - Neuromuscular Diseases spinal muscular atrophy at NeuromuscularDiseases There are three different types of SMA´s. http://www.bellaonline.com/subjects/6652.asp

forum radio shops sweeps ... Women's Fashion All times in EST Polish Culture: 5:00 PM Crime: 8:00 PM Neuromuscular Diseases You Are Here: BellaOnline Neuromuscular Diseases Maria Teresa Orozco BellaOnline's Neuromuscular Diseases Editor Spinal Muscular Atrophy There are three different types of SMA´s Definition and Classification [offsite link] Forget me not I´ve been away due to a serious case of pneumonia. I will be back very soon. Keeping The Faith This article is a continuation of Unforgettable Wednesday. It describes what I went through while being hospitalized. I share what and who helped me in my recovery. Links marked with the [offsite link] designation point to websites not associated with BellaOnline.com. BellaOnline.com is not responsible for the material found there. Want to Suggest a Link? Think your link belongs here? Use the contact page to let this editor know. For FREE email updates, subscribe to the Neuromuscular Diseases Newsletter Keeping The Faith Unforgettable Wednesday Show me the letter Article Archive ... Read the Forum Join This Newsletter! Member Login Newsletters EBooks Courses ... Book Clubs Beating the Heat ...

76. Health Information Resource Database: Families Of Spinal Muscular Atrophy Families of spinal muscular atrophy was founded to support families with members spinal muscular atrophy is a group of diseases which affect all age http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2292

77. Infantile Spinal Muscular Atrophy Infantile spinal muscular atrophy is an inherited condition. The nerve cells that service the muscles don t work properly, causing muscle weakness and http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Infantile_spinal_

78. Spinal Muscular Atrophy Burghes et al (1994) Linkage mapping of the spinal muscular atrophy gene. Hum. Daniels et al (1992) Prenatal prediction of spinal muscular atrophy. http://www.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

79. Home Around the world working together to make a difference for spinal muscular atrophy . Deutsch, English, Español Français Italiano http://www.iasma.net/

"Around the world working together to make a difference for Spinal Muscular Atrophy" [Deutsch] [English] [Italiano] [Chinese Simplified] [Chinese Traditional] You are here: Home Home IASMA Members About IASMA Welcome to the IASMA Web Site Our mission is to promote international collaborative research efforts, to ensure that there is co-ordinated research and to exchange information. More Information About IASMA Members Read More about the IASMA

80. Spinal Muscular Atrophy - Wheeless' Textbook Of Orthopaedics in spinal muscular atrophy, creatine phosphokinase and aldolase muscle enzymes in the blood are either at normal levels or are slightly elevated; http://www.wheelessonline.com/ortho/spinal_muscular_atrophy

Duke Orthopaedics presents Wheeless' Textbook of Orthopaedics Site Index A - Z Search Site by Word Home Contact Us My Account Spinal Muscular Atrophy - Discussion: - disease of infancy and childhood, however, severity of disease is variable in its severity and progression; - transmitted as an autosomal recessive trait; - there is degeneration of the anterior horn cells of spinal cord w/ associated muscle weakness and atrophy; - its most severe form, Werdnig-Hoffman disease, may be noted at birth or in early infancy and usually leads to death within months; - Clinical Findings: - condition presents with hypotonia, areflexia, and motor dysfunction; - sensation remains intact; - although these patients may sit, severe muscle weakness causes to joint contractures, bony abnormalities, and scoliosis; - most striking finding is muscle weakness; - patients will have minimal leg leg movement; - weakness progresses to upper limbs and finally to muscles of respiration;

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