Geometry.Net - Health_Conditions: Spinal Muscular Atrophy

Internet Resources For Special Children (IRSC) - Worldwide Resource For Disabili
Musculoskeletal Disorders spinal muscular atrophy. IRSC Home Musculoskeletal Disorders spinal muscular atrophy. Categories.
http://www.irsc.org/sma.htm
Neurological Disorders - Spinal Muscular Atrophy
For a doctor who specializes in this topic, click here. spinal muscular atrophy.What is spinal muscular atrophy (SMA)? What causes spinal muscular atrophy?
http://www.chkd.org/Neurology/sma.asp

Extractions: Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. 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.
Spinal Muscular Atrophy (SMA)
spinal muscular atrophy (SMA). Case Study of spasticity. EMG and musclebiopsy were typical for spinal muscular atrophy (SMA) type II.
http://www.athenadiagnostics.com/site/content/diagnostic_ed/case_studies/sma1.as

Extractions: A 3-year-old boy was able to stand and cruise at age 13-months, but lost this ability at age 18-months. There was a strong suspicion of mental retardation due to delayed speech and social development. Exam showed diffuse muscle weakness and atrophy, diminished reflexes, and absence of spasticity. EMG and muscle biopsy were typical for Spinal Muscular Atrophy (SMA) type II. A SMA DNA test demonstrated absent PCR reaction product for exon 8, while that for exon 7 was present. Nerve conduction studies demonstrated normal sensory nerve action potential amplitudes and normal motor nerve conduction velocities with a diminished compound motor action potential amplitude. EMG demonstrated delayed recruitment and fast firing of high amplitude, as well as long duration motor unit potentials. Muscle biopsy demonstrated severe atrophy of both type I and type II muscle fibers, with a single fascicle with enlarged fibers having type I histochemistry. While the presence of other neurological problems had precluded diagnosis by formal criteria, the DNA test resulted in a diagnosis of SMA type II/III, Idiopathic Mental Retardation. Mental retardation, cerebral palsy, seizures, or other relatively common disorders of the CNS may co-exist with SMA, or may be a sign of more global neurological disease.
Spinal Muscular Atrophy (SMA)
spinal muscular atrophy (SMA). Case Study B A 40year-old male first notedmild weakness in climbing stairs and running while in college.
http://www.athenadiagnostics.com/site/content/diagnostic_ed/case_studies/sma2.as

Extractions: A 40-year-old male first noted mild weakness in climbing stairs and running while in college. At presentation, he was ambulatory with a waddling gait. Examination demonstrated weakness of proximal muscles in the legs, pseudohypertrophy of the calves, and absent deep tendon reflexes in the legs. EMG demonstrated delayed recruitment and enlarged voluntary motor units, but no abnormal spontaneous activity. Nerve conduction studies were normal. Muscle biopsy revealed an increased variability of fiber calibers, some grouped atrophic fibers, and a predominance of fibers with type I histochemical features. A Spinal Muscular Atrophy (SMA) DNA test demonstrated absence of PCR product for both exons 7 and 8 of the Survival Motor Neuron (SMN) gene. A diagnosis of adult onset SMA was made.
AAEM - Patient Resources - Spinal Muscular Atrophy
Patient Resources spinal muscular atrophy. spinal muscular atrophy.spinal muscular atrophy is an inherited disease with progressive
http://www.aaem.net/aaem/patientInfo/spinal_muscular_atrophy.cfm

Extractions: List Rental Spinal Muscular Atrophy is an inherited disease with progressive weakness caused by the death of the motor nerve cells in the spinal cord and brainstem. The more severe type ( Werdnig Hoffmann disease ) presents in infancy; these infants do not walk and may die from respiratory failure before their second birthday. Kugelberg Welander disease presents later in life (after age 2 years) and has a variable course with more severe disease expected when the weakness starts in the younger child. For More Information: National Organization for Rare Disorders (NORD) - www.rarediseases.org National Society for Genetic Counselors (NSGC) - www.nsgc.org Hereditary Disease Foundation - www.hdfoundation.org
Jennifer Trust For Spinal Muscular Atrophy
Jennifer Trust for spinal muscular atrophy Aims The relief of persons sufferingfrom spinal muscular atrophy and related conditions. Tel 01789 267 520.
http://www.charitiesdirect.com/charity6/ch019046.htm
Families Of Spinal Muscular Atrophy
Return to Search Page Families of spinal muscular atrophy. Conditions Spinal MuscularAtrophy (SMA); WerdnigHoffman disease; Kugelberg-Welander disease.
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Fami
Streetplay.com: Charity Softball Event - Spinal Muscular Atrophy
Softball game between WFAN radio and KeySpan Energy Corporationto benefit Families of spinal muscular atrophy.
http://www.streetplay.com/news/fsma1.htm

Extractions: A game winning rally in the bottom of the seventh lifted the KeySpan Employee Softball Team to an 8-7 victory over WFAN in this year's contest. In addition to providing a good time for players and spectators, the event raised close to $8,000 to help fight a crippling disease. The game was organized by Ed Brodsky of KeySpan Energy as a benefit to Families of Spinal Muscular Atrophy. SMA is a crippling and sometimes fatal disease that destroys the nerves controlling voluntary movement. It is the number one killer of children under the age of two and one in 40 people carry the SMA gene. Ed has become an active member of the Families of SMA organization because his four year old son Michael suffers from the disease. An additional benefit event is scheduled for July 30, when LI News 12 plays Farmingdale's Fire Department at the Bethpage Community Park. Ed feels the two events will raise more than last year's $10,000 total. All funds are used in support of SMA research and assistance programs.
Clinical And Molecular Diagnosis Of Spinal Muscular Atrophy - S. Phadke, B. Mitt
Clinical and Molecular Diagnosis of spinal muscular atrophy I Panigrahi, A. Kesari,SR Phadke, B. Mittal Department of Medical Genetics, Sanjay Gandhi
http://www.neurologyindia.com/vol50-2/1572ab.php

Extractions: Summary : The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA. Full Article Editor : S.Prabhakar
HONselect - Muscular Atrophy, Spinal
English Muscular Atrophy, Spinal, Bulbospinal Neuronopathy - Kennedy Syndrome- Oculopharyngeal spinal muscular atrophy - Progressive Muscular Atrophy
http://www.hon.ch/HONselect/RareDiseases/C10.228.854.468.html
Spinal Muscular Atrophy
spinal muscular atrophy. Definition Causes, incidence, and risk factors Spinalmuscular atrophy (SMA) is the second leading cause of neuromuscular disease.
http://www.pennhealth.com/ency/article/000996.htm

Extractions: 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, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness is progressive and will eventually become profound, but children with type III disease may survive into early adulthood.
NIH Guide:
spinal muscular atrophy, AMYOTROPHIC LATERAL SCLEROSIS, AND OTHER MOTOR NEURONDISORDERS Release Date March 9, 2000 RFA NS01-004 National Institute of
http://grants.nih.gov/grants/guide/rfa-files/RFA-NS-01-004.html

Extractions: GL54h@nih.gov Direct inquiries regarding fiscal matters to: Tina M. Carlisle Grants Management Specialist National Institute of Neurological Disorders and Stroke 6001 Executive Boulevard, Suite 3264, MSC 9537 Bethesda, Maryland 20892-9537 Phone: (301) 496-3938 FAX: (301) 402-0219 Email: carlislt@ninds.nih.gov LETTER OF INTENT Prospective applicants are asked to submit a letter of intent that includes a descriptive title of the proposed research, the name, address, and telephone number of the Principal Investigator, the identities of other key personnel and participating institutions, and the number and title of the RFA in response to which the application may be submitted. Although a letter of intent is not required, is not binding, and does not enter into the review of a subsequent application, the information that it contains allows NINDS staff to estimate the potential review workload and plan the review. The Letter of Intent is to be sent to: Gabrielle G. Leblanc, Ph.D. Program Director Neurodevelopment Program National Institute of Neurological Disorders and Stroke Neuroscience Center, Suite 2136, MSC 9523 6001 Executive Boulevard Bethesda, MD 20892-9523 (Rockville, MD 20852 for courier service) Phone: 301-496-5745 FAX: 301-402-1501 E-mail: GL54h@nih.gov
(11[2]: 231-247) Spinal Muscular Atrophy: Present State
(112 231247) spinal muscular atrophy Present State Henning Schmalbruch andGeorg Haase spinal muscular atrophy (SMA) is a hereditary neurodegenerative
http://brainpath.medsch.ucla.edu/abstracts/vol11/1102/112a9.htm

Extractions: Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig-Hoffmann disease (SMA 1) to relatively benign Kugelberg-Welander disease (SMA 3). Onset before birth possibly aggravates the clinical course, because immature motoneurons do not show compensatory sprouting and collateral reinnervation, and motor units in SMA 1, in contrast to those in SMA 3, are not enlarged. Genetic evidence indicates that SMN2, a gene 99% identical to SMN1, can attenuate SMA severity: in patients, more SMN2 copies and higher SMN protein levels are correlated with milder SMA. There is evidence that SMN plays a role in motoneuron RNA metabolism, but it has also been linked to apoptosis. Several mouse models with motoneuron disease have been successfully treated with neurotrophic factors. None of these models is, however, homologous to SMA. Recently, genetic mouse models of SMA have been created by introducing human SMN2 transgenes into Smn knockout mice or by targeting the Smn gene knockout to neurons. These mice not only provide important insights into the pathogenesis of SMA but are also crucial for testing new therapeutic strategies. These include SMN gene transfer, molecules capable to up-regulate SMN expression and trophic or antiapoptotic factors. (
RESOUR> Spinal Muscular Atrophy Month
RESOUR spinal muscular atrophy Month. Per the National Health Information Center(http//nhicnt.health.org/nho97a.htm) this is spinal muscular atrophy month.
http://scout.wisc.edu/addserv/NH/97-08/97-08-01/0010.html
Spinal Muscular Atrophy
spinal muscular atrophy. HISTORY OF THE PIN. Links. SMA Angels This pageis dedicated to educating people about spinal muscular atrophy Type I.
http://parentingbyparents.com/spinal_muscular_atrophy.htm

Extractions: Spinal Muscular Atrophy HISTORY OF THE PIN The SMA pin was created at the time of Madison Rose Reed's baptism on June 22, 1997. Leftover ribbon and roses from her gown were formed into the pins worn by family members that day. The cream color ribbon represents the innocence and purity that our children possess. The rose stands for strength and courage: a quality that all with SMA and those affected by SMA possess. The ribbon/rose pin became a symbol for SMA Awareness in June of 1998. The ceramic pin was developed in March of 1999 by Margo Manhattan Jewelry, for the SMA fundraiser "Madison's Angels at the End Zone." If you would like to learn more or order your own pin, please visit Miracle for Madison and Friends. Be sure to read Madison's story while you're there! Links SMA Angels - This page is dedicated to educating people about Spinal Muscular Atrophy Type I This list of links was taken from the SMA Angels website. Alliance of Genetic Support Groups Directory Amanda's Homepage Andrew's Buddies Arthur M. Burghes, Ph.D ... Link to Us
GeneReviews: Spinal And Bulbar Muscular Atrophy
Your browser does not support HTML frames so you must view Spinaland Bulbar muscular atrophy in a slightly less readable form.
http://www.geneclinics.org/profiles/kennedy/
!MUSCULAR DYSTROPHY ASSOCIATION - MDA
Extensive information on the range of disorders, research information and many links to onsite publicatio Category Health Conditions and Diseases OrganizationsEnter The Home of MDA .
http://www.mda.org.au/
The Jennifer Trust Site Has Moved To Http://www.jtsma.org.uk/
The Jennifer Trust site has moved. The Jennifer Trust site is now athttp//www.jtsma.org.uk/. Please change your bookmarks to the new URL.
http://www.jtsma.demon.co.uk/

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