81. Disease Directory : Neurological Disorders : Muscle Diseases : Spinal Muscular A Diseases Neurological Disorders Muscle Diseases spinal muscular atrophy. AllRefer Health spinal muscular atrophy (Werdnig-Hoffmann http://www.diseasedirectory.net/Neurological_Disorders/Muscle_Diseases/Spinal_Mu

Wednesday, June 02, 2004 Neurological Disorders Muscle Diseases Isaacs Syndrome Muscular Dystrophies ... Muscle Diseases : Spinal Muscular Atrophy AllRefer Health - Spinal Muscular Atrophy (Werdnig-Hoffmann ... - Spinal Muscular Atrophy (Werdnig-Hoffmann Disease) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs Disorder Information - INTRODUCTION TO SPINAL MUSCULAR ATROPHY - INTRODUCTION TO SPINAL MUSCULAR ATROPHY. The information in this section is a comprehensive overview, explantion and definition of Families of SMA (Spinal Muscular Atrophy) - International support group and resource center for this disease, includes current research. FightSMA - Web site promoting public awareness for spinal muscular atrophy. GeneClinics SMA Information Page - Overview of SMA, its genetics, clinical presentation and testing. It is written by experts in SMA research and genetic testing. Health Information Resource Database: Families of Spinal Muscular ... - Families of Spinal Muscular Atrophy. Contact Information. Spinal muscular atrophy is a group of diseases which affect all age groups, from newborns to adults. Ilsa's SMA Resources - A detailed description, news and links with information about Spinal Muscular Atrophy. A personal story of a baby, Ilsa.

82. Spinal Muscular Atrophy - Genetics Home Reference spinal muscular atrophy. What is spinal muscular atrophy? spinal muscular atrophy severe. How common is spinal muscular atrophy? Spinal muscular http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Spinal muscular atrophy Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Spinal muscular atrophy What is spinal muscular atrophy? Spinal muscular atrophy affects the control of muscle movement and is caused by a loss of specialized nerve cells (motor neurons) in the spinal cord and the part of the brain that is connected to the spinal cord (brain stem). The loss of motor neurons leads to weakness and shrinkage (atrophy) of voluntary muscles used for activities such as crawling, walking, sitting up, and controlling head movement. Spinal muscular atrophy is divided into subtypes based on the severity and age of onset of symptoms. Type I (also called Werdnig-Hoffman disease) is the most severe form of spinal muscular atrophy. Symptoms are evident at birth or within the first few months of life. Affected infants usually have difficulty breathing and swallowing, and they are never able to sit or stand. Children with type II spinal muscular atrophy usually develop muscle weakness between 6 and 12 months of age. Type II children can sit, although they cannot stand or walk unaided. Type III spinal muscular atrophy (also called Kugelberg-Welander disease or juvenile type) is the least severe form, and patients are able to stand and walk unaided. Symptoms appear between early childhood (after age 18 months) and early adulthood. Type IV or adult-onset spinal muscular atrophy typically begins after age 30, and symptoms can range from very mild to very severe.

83. Distal Spinal Muscular Atrophy, Type V - Genetics Home Reference Distal spinal muscular atrophy, type V. What is distal spinal muscular atrophy, type V? How common is distal spinal muscular atrophy, type V? http://ghr.nlm.nih.gov/condition=distalspinalmuscularatrophytypev

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Distal spinal muscular atrophy, type V Related Gene(s) Quick links to this topic MedlinePlus Health Information PubMed Recent literature OMIM Genetic disorder catalog Distal spinal muscular atrophy, type V What is distal spinal muscular atrophy, type V? Distal spinal muscular atrophy, type V is a progressive disorder that affects nerve cells in the spinal cord and weakens muscles in the hands and feet. Symptoms of distal spinal muscular atrophy, type V usually begin during adolescence, but onset varies from late childhood to the mid-30s. Cramps in the hand induced by the cold are often the initial symptom. The main characteristics of this disorder are weakness and wasting away (atrophy) of hand muscles, specifically on the thumb side of the index finger and in the mound of the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common. People with this disorder lead active lives and have normal life expectancies. How common is distal spinal muscular atrophy, type V?

84. WIXT NEWSCHANNEL 9 HEALTH spinal muscular atrophy Last Update 3/26/2004 40515 PM. spinal muscular atrophy (SMA) is a genetic disease of the anterior horn http://www.wixt.com/health/breakthroughs/story.aspx?content_id=E3A02B33-2C5C-4E8

85. 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. 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.

86. Vulpian-Bernhardt Spinal Muscular Atrophy (www.whonamedit.com) VulpianBernhardt spinal muscular atrophy Slowly progrediating neurogenic muscular atrophy. Vulpian-Bernhardt spinal muscular atrophy http://www.whonamedit.com/synd.cfm/2592.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. Vulpian-Bernhardt spinal muscular atrophy Also known as: Vulpian's atrophy Vulpian-Bernhardt syndrome Synonyms: Scapulohumeral atrophy, spinale progressive Muskelatrophie, Schultergürtelform (German). Associated persons: Martin Bernhardt Edmé Félix Alfred Vulpian Description: Slowly progrediating neurogenic muscular atrophy with paralyses, localised proximally on the upper extremities, beginning in the shoulder, and with early involvement of the neck muscles. Bibliography: E. F. A. Vulpian: Maladies du système nerveux. Paris, 1879 and 1886. M. Bernhardt:

87. Spinal Muscular Atrophy spinal muscular atrophy. Definition Causes, incidence, and risk factors spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. http://www.healthscout.com/ency/article/000996.htm

Advertisement Search HealthScout Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Healthscout News 3D Interactive Human Atlas Health Videos Health Encyclopedia ... Drug Library Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Spinal muscular atrophy Definition: A group of inherited diseases that cause progressive muscle degeneration and weakness , eventually leading to death. Alternative Names: Werdnig-Hoffmann disease 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

88. Neurological Disorders, Muscle Diseases, Spinal Muscular Atrophy Submit Your Site to the spinal muscular atrophy category. Sponsored spinal muscular atrophy Sites. Submit Your Site to the spinal muscular atrophy category. http://www.iseekhealth.com/spinal_muscular_atrophy-2080.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Neurological Disorders ... Spinal Muscular Atrophy More Spinal Muscular Atrophy Categories: Submit Your Site to the Spinal Muscular Atrophy category Sponsored Spinal Muscular Atrophy Sites Medical Search Engines, Healthcare Resources, Find Disease Specific Clinical Information on Diseases using Search Engines Designed for that purpose. Buy Diseases Books At Amazon.com and Save! Would you like to save on Diseases Books at Amazon and other stores? Links to compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! Families of SMA (Spinal Muscular Atrophy) - International support group and resource center for this disease, includes current research. Families of Spinal Muscular Atrophy Canada - Canadian charity supports research into a cure for SMA. FightSMA - Web site promoting public awareness for spinal muscular atrophy. GeneClinics SMA Information Page - Overview of SMA, its genetics, clinical presentation and testing. It is written by experts in SMA research and genetic testing. Ilsa's SMA Resources - A detailed description, news and links with information about Spinal Muscular Atrophy. A personal story of a baby, Ilsa.

89. Spinal Muscular Atrophy LocusLink collection of generelated information OMIM catalog of human genes and 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.

90. Spinal Muscular Atrophy Websites. spinal muscular atrophy Foundation raises funds for SMA research. Families of spinal muscular atrophy supports families affected by SMA. Search. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

91. Spinal Muscular Atrophy Cynthia Brooks Reporting spinal muscular atrophy, Sometimes it s hard for her to sit up for long periods of time. Morgan has spinal muscular atrophy. http://www.wtkr.com/Global/story.asp?S=1800231

92. Spinal Muscular Atrophy related terms inherited motor neuron diseases. What is spinal muscular atrophy? The inconclusive. How is spinal muscular atrophy diagnosed? http://www.upei.ca/~cidd/Diseases/nervous system disorders/spinal muscular atrop

related terms: inherited motor neuron diseases What is spinal muscular atrophy? The term spinal muscular atrophy is applied to most of the inherited motor neuron diseases in humans that affect mainly (although not exclusively) motor neurons. Motor neurons are the nerve cells that convey impulses to the muscles to produce movement. The syndromes vary between breeds (see below) but in general, degeneration of these neurons causes progressive weakness with difficulty in supporting weight, reduced reflexes, abnormal gait, and a loss of muscle mass (muscle atrophy). The disorder in the Brittany spaniel is uncommon and the rest of these disorders are very rare. Abnormality Breeds affected (RARE) Inheritance Clinical features Spinal muscular atrophy Brittany spaniel AD signs appear by 3 to 4 months ( homozygotes ), and are rapidly progressive; or not until 2 to 3 years ( heterozygotes ); initial weakness in hind end progresses to involve all 4 limbs Focal spinal muscular atrophy German shepherd unknown signs by 1 to 2 months; weakness in the front legs

93. Dictionary Definition Of JUVENILE SPINAL MUSCULAR ATROPHY Dictionary definition of JUVENILE spinal muscular atrophy. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A http://www.dictionarybarn.com/JUVENILE-SPINAL-MUSCULAR-ATROPHY.php

Dictionary definition of JUVENILE SPINAL MUSCULAR ATROPHY Browse Dictionary by alphabet A B C D ... Z Top Words juba jubate jubilee juccuya ... juncturae zygapophyseales Slowly progressive proximal muscular weakness and wasting, beginning in childhood, caused by degeneration of motor neurons in the anterior horns of the spinal cord; onset usually between 2 and 17 years of age; usually autosomal recessive inheritance. Synonym: juvenile muscular atrophy, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander disease. Please select first two letters of word you are looking for JA JB JC JD ... JZ fiSearchFormMaxSetId='AX006027'; Top Words juncture june juneberry Jung's muscle ... Home Sponsored By: Arkansas Car Rentals California Car Rentals Colorado Car Rentals

94. Epidemiology Of Spinal Muscular Atrophy back spinal muscular atrophy prevalence in the population and incidence at birth (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.

95. Spinal Muscular Atrophy Detailed information on spinal muscular atrophy, including causes, symptoms, diagnosis, and treatment. spinal muscular atrophy. What http://www.healthsystem.virginia.edu/uvahealth/peds_neuro/sma.cfm

@import url(/assets/UVAHealth/ssi/css/greystone_advance.css); Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation FIND A DOCTOR MAKE AN APPOINTMENT CALENDAR OF EVENTS CLINICAL TRIALS 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.

96. 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

97. IRSC - Musculoskeletal Disorders, Spinal Muscular Atrophy Musculoskeletal Disorders spinal muscular atrophy. IRSC Home Musculoskeletal Disorders spinal muscular atrophy. Categories. http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Musculoskeletal Diso

98. Spinal Muscular Atrophy Release. June 9, 2003. Eric Cantor and Howie Long to Hold Press Conference to Help the Fight Against spinal muscular atrophy. Congressman http://www.cantorforcongress.com/news/2003/spinal_muscular_atrophy.htm

Release June 9, 2003 Eric Cantor and Howie Long to Hold Press Conference to Help the Fight Against Spinal Muscular Atrophy Congressman Eric Cantor will hold a press conference Tuesday in the U.S. Capitol to address Spinal Muscular Atrophy (SMA), the leading genetic killer of infants and toddlers, and the need for increased funding and continued Congressional support. Cantor will be introducing NFL Hall of Famer Howie Long, the National Honorary Chairman of FightSMA. Joining Congressman Cantor will be Martha Slay, President of FightSMA, who founded and based FightSMA in Richmond, VA. Twelve years ago, FightSMA was created to find a cure for spinal muscular atrophy, a deadly childhood disease. FightSMA supports research to find a treatment for SMA and during 2002 the group awarded more than $1.3 million for SMA research. The 79 House Members and 31 Senators who signed a letter to the NIH in support of increased resources for basic and translational research for SMA will be recognized during the press conference. Stats News Paid for by Cantor for Congress webmaster@cantorforcongress.com

99. Research Projects - Spinal Muscular Atrophy spinal muscular atrophy. What Is spinal muscular atrophy? Spinal International spinal muscular atrophy (SMA) Patient Registry. The 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. International Spinal Muscular Atrophy (SMA) Patient Registry The International Spinal Muscular Atrophy (SMA) Patient Registry was established at Indiana University in response to a recommendation from the support organization, Families of SMA. The International SMA Patient Registry is completely funded by this support organization. This registry 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 International SMA Patient Registry makes this happen by collecting and maintaining information on SMA patients and families.

100. Carrier Testing For Spinal Muscular Atrophy - HUM-MOLGEN Author, Topic Carrier testing for spinal muscular atrophy. I have a family interested 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

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