61. Infantile Spinal Muscular Atrophy Infantile spinal muscular atrophy is an inherited condition. The nervecells muscular Infantile spinal muscular atrophy. Nerve cells http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Infantile_spinal_

62. A Mouse Model For Spinal Muscular Atrophy 1 pp 66 70 A mouse model for spinal muscular atrophy Hsiu Mei Hsieh-Li 1, 4, Jan-Gowth Chang 2, 4 , Yuh-Jyh Jong 3 , Mei-Hsiang Wu 1 , Nancy M. Wang 2 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v24/n1/full/ng0100_6

63. Nature Publishing Group 1 pp 83 86 Identification of a candidate modifying gene for spinal muscular atrophyby comparative genomics Jeremiah M. Scharf 1 , Matthew G. Endrizzi 2 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v20/n1/full/ng0998_8

64. Spinal Muscular Atrophy Print this article. Find related articles By topic Neurology. By keywordsReceive HealthLink via email! Subscribe now . spinal muscular atrophy. http://healthlink.mcw.edu/article/921988418.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> 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 occurs more often in the legs than in the arms. There are many types of SMA. Most types, however, are extremely rare, occurring in only one or two families. Some of the more common types are briefly described below. SMA type I , also called Werdnig-Hoffman disease , generally has onset in utero or within the first few months of life. There may be lack of fetal movement in the final months of pregnancy. Symptoms may include hypotonia (diminished muscle tone), weakness, swallowing and feeding difficulties, and respiratory problems. Onset of SMA type II usually occurs between 3 and 15 months of age. Features may include inability to stand or walk, respiratory problems, hypotonia, decreased or absent deep tendon reflexes, and muscle fasciculations (involuntary contractions or twitching of groups of muscles).

65. The Jennifer Trust For Spinal Muscular Atrophy About the Charities The Jennifer Trust for spinal muscular atrophy What Is SpinalMuscular Atrophy? What is the Jennifer Trust for spinal muscular atrophy? http://www.jeansforgenes.com/2_about/2008_aboutjt.php

About the Charities: The Jennifer Trust for Spinal Muscular Atrophy What Is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a neuromuscular condition affecting 1 baby in every 6,400 born. One in forty people in the UK are carriers. Tumu and Mum Josephine. Photo: Nigel Sutton Sadly; baby Alisha from Dorset died of Type I SM last October, aged just seven months. What is the Jennifer Trust for Spinal Muscular Atrophy? The Jennifer Trust exists to support children who have SMA and their families. The Trust offers support; advocacy, education and information to both families and health care professionals as well as funding much research into the condition. Currently the Jennifer Trust is funding work to gain better understanding of the function of SMN protein, which is missing in the gene that causes SMA. Note: Back Visit www.jtsma.org.uk The other charities involved Where the funds are going ... Site Map

66. Spinal Muscular Atrophy(SMA) And Muscular Dystrophy (MD): The Ultimate Chronic I The speed of MD's progression, age of onset, and average life span alsovary. I have spinal muscular atrophy, which is a form of MD. http://www.ricehahn.com/resource/md.html

YOUR SOURCE FOR INFORMATION ABOUT: Of Interest: HOME CLICK HERE to tell a friend about this site Info About This Site Please take a look at: The companion Web site for that book is at: GenealogyTips Rhymes and Reasons Read an excerpt from Pamela Rice Hahn's book, subtitled Thoughts on Coping with Chronic Illness , CFS, FM, MCS, Sex, and Other Stuff Special thanks goes to RJ Corradino for his help with this s ection *RJ passed away in March of 2000 due to complications from his illness. His spirit lives on through his poetry , but there's not a day that goes by that I don't miss him. /prh Muscular Dystrophy Muscular Dystrophy isn't just one disease. Actually, muscular dystrophy is a term that refers to an assortment of hereditary muscle-destroying conditions. These can vary enormously. Some people with MD are very ambulatory, while others need to use wheelchairs. The speed of MD's progression, age of onset, and average life span also vary. I have Spinal Muscular Atrophy, which is a form of MD. While most of this page is related specifically to SMA, I feel that all of the information here will be can be applied to other forms of MD as well. I hope to include more links about Duchenne MD (the most common) and some other forms in the near future. -RJ Corradino Muscular Dystrophy Association The MDA site has plenty of information, including a

67. SMN Knockouts - Spinal Muscular Dystrophy The role of the SMN gene in proximal spinal muscular atrophy. Correlationbetween severity and SMN protein level in spinal muscular atrophy. http://tbase.jax.org/docs/Smn.html

Current Features in TBASE by Anna V. Anagnostopoulos JANUARY 2000 Families of SMA Home Page Smn Knockouts: A Model for Spinal Muscular Dystrophy January 2000 features mouse knockouts harboring a targeted replacement of the murine Smn gene (exon 7) with the HPRT cassette. Hsieh-Li et al. demonstrate that Smn -null mice perish during the peri-implantation stage, around E6.5. Interestingly, transgenic mice expressing human SMN2 in the Smn -null background (termed "SMA-like mice" ) display molecular and pathological features which closely resemble those found in patients with spinal muscular dystrophy (SMA) . The expression of SMN protein in Sma-like mice correlated with the severity of pathologies. Moreover, there was a strong correlation between SMN2 copy number and the mutant phenotype. The "SMA-like mouse" model provides a potential means for developing therapeutic strategies in human SMA patients through over- expression of intact SMN protein from KNOCKOUT-RELATED SITES Selected Reading Database Links Miscellaneous Sites Your Suggestions on this Feature Selected Reading - Click on the Bullet to View Abstract A mouse model for spinal muscular dystrophy.

68. Spinal Muscular Atrophy: Health Beat: UI Health Care spinal muscular atrophy. Praful Neurology Interview highlights What is SpinalMuscular Atrophy; What are the symptoms of spinal muscular atrophy; http://www.uihealthcare.com/news/healthbeat/neurology/kelkar.html

UI Carver College of Medicine UI Hospitals and Clinics Children's Hospital of Iowa Holden Comprehensive Cancer Center ... Services in your community - UI Health Care's digital library Send comments and questions to staff@uihealthcare.com University of Iowa Spinal Muscular Atrophy Praful Kelkar, M.D. Professor of Neurology Interview highlights: What is Spinal Muscular Atrophy What are the symptoms of Spinal Muscular Atrophy What are the various forms of the disease Who is at risk Disease screening possibilities Treatment Where to get more information Select one of the following for a complete audio of the interview: Long Broadcast: long mp3 long wav UI Health Care Home About Us ... Search Information for: Patients/Visitors Health Care Professionals Residents/Fellows Students ... We Welcome Your Comments and Questions Last modification date: Wed Jan 22 13:29:12 2003 URL: http://www.uihealthcare.com/news/healthbeat/neurology/kelkar.html

69. Bigchalk: HomeworkCentral: Muscular Dystrophy & Spinal Muscular Atrophy (L - R) Looking for the best facts and sites on Muscular Dystrophy Spinal MuscularAtrophy? Overview; spinal muscular atrophy; Types of Muscular Dystrophy. http://www.bigchalk.com/cgi-bin/WebObjects/WOPortal.woa/Homework/High_School/Sci

Home About Us Newsletters My Products ... Product Info Center Email this page to a friend! K-5 document.write(''); document.write(''); document.write(''); document.write(''); World Book Online Article on MUSCULAR DYSTROPHY Congenital muscular dystrophy Detailed Overview Introduction ... Contact Us

70. Spinal Muscular Atrophy Grants And Fellowships spinal muscular atrophy Grants and Fellowships. http://www.bcm.tmc.edu/pda/announcements/Funding/SMAgrants.html

Home Announcements Reference PDA Interactive Spinal Muscular Atrophy Grants and Fellowships other funding announcements: Fellowship in Medical Mycology 1999 American Federation For Aging Research Award Programs 1999 McKnight Scholar Awards American Heart Foundation ... Whitehall Foundation Sponsor: Families of Spinal Muscular Atrophy(SMA) Deadline: July 11, 1998 Letter of Intent September 1, 1998 Full Application The sponsor intends to fund 1.2 million in research grants and post-doctoral fellowships. Funding will be for clinical and basic aspects of the pathogenesis of SMA. Research grants can have budgets of $50,000-$100,000 a year and the fellowship stipend will be commensurate with the training of the individual. Applicants should apply by submitting a letter of intent and one page abstract that contains the following: 1) Name, address, telephone, fax, and e-mail 2) Title of Project 3) Nature of Project: to include its specific aim and relevance to SMA 4) Length of time for the project 5) Amount of funding requested for total project, to include an annual budget.

71. 1Up Health > Spinal Muscular Atrophy > Causes, Incidence, And Risk Factors Of Sp Comprehesive information on spinal muscular atrophy (WerdnigHoffmann disease). Spinalmuscular atrophy Causes, Incidence, and Risk Factors. Alternative names http://www.1uphealth.com/health/spinal_muscular_atrophy_info.html

1Up Health Spinal muscular atrophy Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Spinal muscular atrophy Information Spinal muscular atrophy Causes, Incidence, and Risk Factors Alternative names : Werdnig-Hoffmann disease Definition : A group of inherited diseases that cause progressive muscle degeneration and weakness , eventually leading to death. Causes, Incidence, and Risk Factors 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

72. Aran-Duchenne Spinal Muscular Atrophy (www.whonamedit.com) AranDuchenne spinal muscular atrophy Condition characterized by chronicprogressive 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 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. Caused by degeneration of the anterior horn cells of the spinal cord. Occasionally the bulbar nuclei of the brain are involved. A variant of amyotrophic lateral sclerosis with a relatively benign course. A variety of conditions may lead to the development of this disease: infections, avitaminosis, or toxins.

73. Carrier Testing For Spinal Muscular Atrophy - HUM-MOLGEN Author, Topic Carrier testing for spinal muscular atrophy. I have a familyinterested in DNA carrier testing for spinal muscular atrophy. http://www.hum-molgen.de/bb/Forum2/HTML/000112.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Carrier testing for Spinal Muscular Atrophy profile register preferences faq ... next oldest topic Author Topic: Carrier testing for Spinal Muscular Atrophy marivicervera Member posted 10-10-2002 03:43 AM I have a family interested in DNA carrier testing for Spinal Muscular Atrophy. I would like to know if someone is performing this molecular studies. Thank you Dra. Marivi Cervera Gaviria IP: 64.12.96.104 godmilow Member posted 01-13-2003 10:05 PM The Molecular Pthology Laboratory here at the University of Pennsylvania offers SMA carrier testing. Send an email with your fax # and I will fax the protocol for submitting a sample. Lynn Godmilow, MSW, CGC IP: 130.91.12.81 godmilow Member posted 01-15-2003 03:14 PM Our laboratory at the University of Pennsylvania offers direct, carrier and prenatal testing for chromosome 5 linked SMA. Contact me directly at godmilow@mail.med.upenn.edu for more information. Lynn Godmilow, MSW, CGC IP: 130.91.12.81

74. Spinal Muscular Atrophy - HUM-MOLGEN Author, Topic spinal muscular atrophy. marivicervera I have recently seena 6 years old boy whith spinal muscular atrophy confirmed by biosy. The http://www.hum-molgen.de/bb/Forum2/HTML/000107.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Spinal Muscular Atrophy profile register preferences faq ... next oldest topic Author Topic: Spinal Muscular Atrophy marivicervera Member posted 08-13-2002 06:48 PM I have recently seen a 6 years old boy whith spinal muscular atrophy confirmed by biosy. The familiy is interested in molecular studies. I would like to know if anyone is working on this studies. Thank you. Marivi Cervera M.D. IP: 152.163.201.187 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications Open Topic Forum List of Archives: Genetic News Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 8.000 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

75. Jennifer Trust For Spinal Muscular Atrophy Jennifer Trust for spinal muscular atrophy. By You can apply to jointhe Jennifer Trust for spinal muscular atrophy Lottery. CLICK http://www.theweatherlottery.com/lpage.php3?code=JENNI

76. SPINAL MUSCULAR ATROPHY DNA Testing Letter. Whilst I was diagnosed as having Spinal MuscularAtrophy in 1975, I wasn't DNA tested until December, 1997. The http://members.optushome.com.au/wheelabout/sma.html

Return to About Brian Spinal Muscular Atrophy II - "The Intermediate Form" Contact the Muscular Dystrophy Association of Australia 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 The major difference between these types are the age of onset and the severity of the condition.

77. Cytolog's Effect With Spinal Muscular Atrophy (SMA) Werdnig-Hoffman's Disease - spinal muscular atrophy (SMA) WerdnigHoffman's Disease Jean Uelman, Antigua, Guatamala. SMA,Families of spinal muscular atrophy. SMA, Florida Medical Network. http://www.cytolog.com/Histories2.html

Spinal Muscular Atrophy (SMA) Werdnig-Hoffman's Disease Jean Uelman, Antigua, Guatamala. In 1996 Jean came to the beautiful city of Antiqua, Guatemala to die. At 50, she had lived well beyond the expectations of one born with the rare genetic disorder known as Werdnig-Hoffman's Disease also known as Spinal Muscular Atrophy. Her two siblings, both born with the disease, died before the age of four. Jean had more than just survived. She went beyond the struggle to breathe and swallow and manage within the constraints of a wheelchair. Jean had gone on to receive a Ph.D. in Psychology and had established and maintained a successful practice throughout most of her adult life. Now, with the disease so advanced and the pain so relentless, it seemed that the time had come to prepare for the inevitable. In February of 1997 a friend brought news that a physician in Guatemala City was conducting a study involving patients with Rheumatoid Arthritis. The friend went on to say that the subjects in the study had experienced dramatic reductions in pain. Jean didn't have arthritis but she did have severe pain. So with little more than a remote possibility to reduce her level of sciatic pain, Jean and her friend set out to meet this doctor and find out more about what the patients had taken. Dr. Alejandro Nitsch proved to be more than a compassionate man. In spite of his limited supply of Cytolog, he gave Jean a bottle of it, and with it a full measure of prayer. Readers Note: Following are the exact entries made over a period of six weeks that Jean made in her personal journal upon starting Cytolog. It is important to understand that Spinal Muscular Atrophy is a disease characterized by decline, not improvement, and that she had lived with and learned to accommodate that decline for almost 50 years. Out of respect for Jean's efforts to record a careful account of her experience, her log is presented in its entirety. It provides in real time, an unusual and very intimate perspective on her results.

78. Spinal Muscular Atrophy spinal muscular atrophy. Informational Sites. MEDLINEplus SpinalMuscular Atrophy Excellent source of authoritative information. http://hml.org/CHIS/topics/spinalma.html

Spinal Muscular Atrophy Contents: Informational Sites Pre-Formulated PubMed Searches Organizations Support Groups Informational Sites MEDLINEplus - Spinal Muscular Atrophy Excellent source of authoritative information. Factsheets, organizations, etc. Source: National Library of Medicine Facts about Spinal Muscular Atrophy (SMA) Source: Muscular Dystropy Association NINDS Spinal Muscular Atrophy Information Page Source: National Institute of Neurological Disorders and Stroke , July 1, 2001 Understanding Spinal Muscular Atrophy: A Comprehensive Guide From the Families of SMA, this online guide discusses what SMA is, its causes, diagnosis, and prognosis. There is also a good section on what you can do at home, to help. Source: Families of Spinal Muscular Atrophy Pre-Formulated PubMed Searches These PubMed searches are pre-formulated for your convenience. They should be used as starting points and are not comprehensive. PubMed Spinal Muscular Atrophydiagnosis Also includes pathology, radiography, and ultrasonography. Spinal Muscular Atrophytherapy Organizations Families of Spinal Muscular Atrophy This non-profit, volunteer organization, supports research, strives to educate, and helps to find support for those who need it.

79. Epidemiology Of Spinal Muscular Atrophy back spinal muscular atrophy prevalence in the population and incidence atbirth (Type I Prevalence of type I spinal muscular atrophy in North Dakota. http://www.enmc.org/enmc/epidemiology/SMA.tab.htm

back Spinal muscular atrophy : prevalence in the population and incidence at birth (Type I severe Werdnig-Hoffmann disease; Type II intermediate; Type III benign Kugelberg-Welander disease) Type Country Region Prevalence Incidence Reference Year Affected Total X 10-6 Years Affected Total X 10-6 I Finland Hungary Norway 573 762 (children) Poland Warsaw Spiegler et al (1990) United Kingdom England Pearn (1973) United States North Dakota Burd et al (1991) I + II + III Canada Winsor et al (1971) Norway 573 762 (children) Switzerland II + III Finland Norway 573 762 (children) Poland Warsaw Spiegler et al (1990) United Kingdom England Pearn (1978) * refers to heterozygote frequency not actual affecteds. = ascertainment probability Note : References: (Type I severe Werdnig-Hoffmann disease; Type II intermediate; Type III benign Kugelberg-Welander disease) Burd L, Short SK, Martsolf JT, Nelson RA. Prevalence of type I spinal muscular atrophy in North Dakota. Am J Med Genet Czeizel A, Hamula J. A Hungarian study on Werdnig-Hoffmann disease. J Med Genet Fried K, Mundel G. High incidence of spinal muscular atrophy type I (Werdnig-Hoffmann disease) in the Karaite community in Israel.

80. SPINAL MUSCULAR ATROPHY, TYPE I spinal muscular atrophy, Type I. PRESENTATION. Identification and characterizationof a spinal muscular atrophydetermining gene. Cell 80 155-165, 1995. http://www.cpdx.com/cpdx/sma1.htm

Spinal Muscular Atrophy, Type I PRESENTATION Obstetrical patient presented at 10 weeks gestation for genetic counseling regarding recurrence risk and available testing for spinal muscular atrophy type 1 (SMA1). HISTORY Patient had a previous child diagnosed with SMA1, also known as Werdnig-Hoffman disease, based on clinical findings. The child passed away at approximately 6 months of age secondary to respiratory failure. MANAGEMENT DISCUSSION REFERENCES Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165, 1995. Lewin, B. Genes for spinal muscular atrophy: multum in parvo. Cell 80: 1-5, 1995. This page developed by Ronda Brewer, M.S. Return to Medical and Scientific Information Online home page This website is provided by Medical and Scientific Information Online, Inc., an Indiana not for profit corporation Center for Prenatal Diagnosis Cryobiology Research Institute

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