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Neurological Disorders - Spinal Muscular Atrophy Spinal muscular atrophy is a degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. uuhsc.utah.edu /healthinfo/pediatric/neuro/sma.htm   (676 words)

Muscular Dystrophy Canada | Spinal muscular atrophy Spinal muscular atrophy (SMA) is the name given to a group of inherited diseases characterized by muscle wasting and weakness. In X-linked spinal bulbar muscular atrophy (SBMA), the disorder is caused by a fault on the androgen receptor gene found on the X chromosome. SMA Type IV and some other rare cases of SMA may be transmitted through other patterns of inheritance as well, so it is important for parents and families to seek genetic counselling for clarification of how the disorder is transmitted within their family muscle.ca /content/index.php?id=993   (3328 words)

Spinal Muscular Atrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS) Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The childhood SMAs are all autosomal recessive diseases. Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder. www.ninds.nih.gov /disorders/sma/sma.htm   (675 words)

The Spinal Muscular Atrophies | MDA Research   (Site not responding. Last check: 2007-10-24) Spinal muscular atrophy is primarily a disease of children, whereas motor neuropathies occur mainly in adults. Spinal muscular atrophy limited to parts of a limb or even parts of a muscle is not uncommon and must often be differentiated from early ALS or a spinal cord mass lesion. Fidzianska A, Goebel HH, Warlo I: Acute spinal muscular atrophy. www.mdausa.org /research/munsat.html   (6135 words)

Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is a genetic disorder, which results in the degeneration of the motor neurons of the spinal cord. SMA occurs with an incidence of between 1 in 6,000 to 1 in 10,000 and is one of the most common genetic causes of death in childhood. SMA is not considered to be a progressive condition, although it may appear to be as individuals may fail to reach normal motor milestones. www.lomak.co.nz /sma.html   (751 words)

About Spinal Muscular Atrophy (SMA)   (Site not responding. Last check: 2007-10-24) Spinal muscular atrophy is a term for a group of inherited neuromuscular diseases. SMA causes lower motor neurons in the base of the brain and the spinal cord to disintegrate, preventing them from delivering electrical and chemical signals that muscles depend on for normal function. SMA type 4 is a term sometimes used to refer to SMA that begins in adulthood. www.smaangel.com /about.htm   (1415 words)

Spinal muscular atrophy - Genetics Home Reference Spinal muscular atrophy is divided into subtypes based on the severity and age of onset of symptoms. Mutations in the SMN1 and VAPB genes cause spinal muscular atrophy. Finkel type spinal muscular atrophy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ghr.nlm.nih.gov /condition=spinalmuscularatrophy   (888 words)

Families of SMA: Understanding Spinal Muscular Atrophy   (Site not responding. Last check: 2007-10-24) SMA is diagnosed primarily through a blood test, which looks for the presence or absence of the SMN1 gene, in conjunction with a suggestive history and physical examination. SMA type is generally determined from the clinical examination evaluating the child’s degree of weakness and ability to achieve major motor milestones such as sitting independently or walking. It is the absence/defect of this SMN1 gene that causes Spinal Muscular Atrophy. www.fsma.org /booklet.shtml   (3768 words)

SMA in Laymen's Terms SMA is a muscular disease passed on genetically to children by their parents. Current statistics show that the average lifespan of a child with SMA Type I, not put on permanent ventilation or "life support", is only 8 months of age, with 80% dying by the age of one, and the majority of the rest dying by age 2. The physical characteristics that often "gives them away" to having SMA is a bell shaped body, legs that stay in the "frog" position, moving the arms from the elbows down only, and the head tilted to the side because of lack of neck muscles. www.smasupport.com /laymen_version.htm   (837 words)

eMedicine - Spinal Muscular Atrophy : Article by Bryan Tsao, MD   (Site not responding. Last check: 2007-10-24) Distal SMA (spinal CMT or HMN type II): This may clinically mimic Charcot-Marie-Tooth (CMT) disease, otherwise known as hereditary motor and sensory neuropathy (HMSN) types 1 and 2: Inheritance with the distal SMAs is correlated with the age of onset. Emery AE: The nosology of the spinal muscular atrophies. Fidzianska A, Goebel HH, Warlo I: Acute infantile spinal muscular atrophy. www.emedicine.com /neuro/topic631.htm   (5285 words)

Spinal muscular atrophy Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death. SMA type III is the least severe form of the disease, and symptoms may not appear until the second year of life. Family history of spinal muscular atrophy is a risk factor for all types of the disorder. www.umm.edu /ency/article/000996.htm   (394 words)

Patient Resources Spinal muscular atrophy (SMA) is a disorder that causes weakness and wasting of muscles. The hereditary SMA syndromes are genetic diseases that cause motor neurons in the spinal cord to degenerate and die, causing the muscle weakness. Hereditary spinal muscular atrophy is a genetic disorder. www.aanem.org /education/patientinfo/spinal_muscular_atrophy.cfm   (260 words)

Spinal Muscular Atrophy Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder characterized by degeneration of groups of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells). SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved. Spinal muscular atrophy is inherited as an autosomal recessive trait. www.webmd.com /hw/brain_nervous_system/nord1135.asp   (587 words)

SPINAL MUSCULAR ATROPHY   (Site not responding. Last check: 2007-10-24) Muscles weaken and waste away (atrophy) due to degeneration of motor neurones which are nerve cells in the spinal cord. Intermediate spinal muscular atrophy is situated somewhere between the infantile and juvenile types in its age of onset and severity. The Muscular Dystrophy Association is an organisation for people with nerve and muscle disorders including the Spinal Muscular Atrophies. www.mda.org.au /specific/mdasma.html   (2253 words)

MedlinePlus: Spinal Muscular Atrophy Spinal Muscular Atrophy (National Institute of Neurological Disorders and Stroke) - Short Summary Glossary of Terms Related to SMA (Families of Spinal Muscular Atrophy) The primary NIH organization for research on Spinal Muscular Atrophy is the National Institute of Neurological Disorders and Stroke www.nlm.nih.gov /medlineplus/spinalmuscularatrophy.html   (247 words)

Facts About Spinal Muscular Atrophy | MDA Publications I’ve had symptoms of spinal muscular atrophy since I was a baby. It wasn’t until I was leaving for college at age 18 that the label was changed again, to spinal muscular atrophy. Children with SMA tend to be highly intelligent, creative and adaptable individuals who contribute much to the world despite their challenges. www.mdausa.org /publications/fa-sma.html   (567 words)

Special Child: Disorder Zone Archives - Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA) is a hereditary disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells found in the spinal cord. SMA is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene and both parents much each pass the SMA gene to the child (receiving one defective gene will not cause SMA). Regardless of the type of SMA a child may have, children with SMA all have normal to advanced intelligence and it is important that they receive all available opportunities to develop their intellectual capacities to the fullest extent. www.specialchild.com /archives/dz-023.html   (6939 words)

Spinal muscular atrophy definition - Medical Dictionary definitions of popular medical terms Spinal muscular atrophy: A genetic disease characterized by progressive loss of lower motor neurons (anterior horn cells) in the spinal cord, resulting in symmetric muscle weakness and atrophy. Molecular genetics studies have disclosed that spinal muscular atrophy (SMA), irrespective of the age at the onset of symptoms, is due to mutation of one gene called the SMN gene. Prenatal onset of SMA: Congenital axonal neuropathy and arthrogryposis multiplex congenita-SMA www.medterms.com /script/main/art.asp?articlekey=23894   (300 words)

Kindred Spirits, SMA In summary, the disorder is an autosomal recessive degeneration of motor neurons that causes weakness and severe muscle atrophy first evident around four months of age. There is lifelong muscular weakness that is incapacitating but not incompatible with an acceptable quality of life for a variable number of years as indoor pets. In the current state of incomplete characterization, we are calling the disorder spinal muscular atrophy (SMA) and so far, it appears to be confined to Maine Coon cats. home.hetnet.nl /~klost001/MCSMA.html   (1571 words)

Spinal Muscular Atrophy   (Site not responding. Last check: 2007-10-24) Spinal muscular atrophy is a rare degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. This form of SMA is seen in children from seven months to 18 months of age. This form of SMA affects children older than 18 months of age. www.healthsystem.virginia.edu /uvahealth/peds_neuro/sma.cfm   (676 words)

Spinal Muscular Atrophy, The Alfred I. duPont Institute Spinal Muscular Atrophy, The Alfred I. duPont Institute A group of disorders characterized by degeneration of the anterior horn cells of the spinal cord and occasionally the neurons of the lower bulbar motor nuclei resulting in muscle weakness and atrophy. Symmetric limb and trunk weakness with muscle atrophy greater in the lower extremities than the upper extremities; and greater atrophy in the proximal muscle groups than the distal muscle groups. gait.aidi.udel.edu /res695/homepage/pd_ortho/educate/clincase/smaab.htm   (820 words)

Hereditary Motor Syndromes 95% of SMA: Exon 7 of SMN1 gene homozygous absent SMA I spinal cords: 100-fold reduction in SMN protein Distal infantile spinal muscular atrophy with diaphragm paralysis (SMARD1) www.neuro.wustl.edu /neuromuscular/synmot.html   (3016 words)

SMA Australia - Home The Spinal Muscular Atrophy Association of Australia Inc. is a registered Non Profit Organisation with the ATO with Tax exemption and DGR Status in Australia. Spinal Muscular Atrophy (SMA) is a genetic motor neuron disease which causes the progressive deterioration of motor neurons in the spinal cord. SMA is the Number One Genetic Killer of Children under 2 years of age! www.smaaustralia.com   (615 words)

Spinal Muscular Atrophy / Family Village The Families of S.M.A. (Spinal Muscular Atrophy) organization promotes and funds research, provides families with the use of their equipment pool to help alleviate the high cost of medical equipment, promotes public awareness, provides networking, and funds a roster at Indiana University, enabling researchers a central location from which to access necessary family information. SMA publishes a quarterly newsletter, Directions, which is included in membership fees, and offer a brochure that describes the organization. Families of SMA collects information on physicians and researcher who treat and study the diseases and makes this information available to its members through the newsletter. www.familyvillage.wisc.edu /lib_spma.htm   (317 words)

MedlinePlus Medical Encyclopedia: Spinal muscular atrophy The most severe form of spinal muscular atrophy is fatal early on. Call your health care provider if your child appears weak, has difficulty feeding, or develops any other symptoms of spinal muscular atrophy. Genetic counseling is recommended for prospective parents with a family history of spinal muscular atrophy. www.nlm.nih.gov /medlineplus/ency/article/000996.htm   (527 words)

SMA Spinal Muscular Atrophy The Spinal Muscular Atrophy (SMA) webring allows individuals and families affected by SMA to join their homepages together. The mission of Special needs family fun is to provide family fun and family health resources to enhance the quality of family life for families with disabilities and special needs. This is Spinal Muscular Atrophy E group in French. p.webring.com /hub?ring=smatrophy&list   (404 words)

Home The Mission of the Jennifer Trust for Spinal Muscular Atrophy (JTSMA) is to be there for everyone affected by or involved with Spinal Muscular Atrophy (SMA), providing support and information, and investing in research. 1 in 40 of the UK population are thought to be carriers of the gene that causes SMA. The JTSMA is proud to be a Founder Member of The International Alliance for Spinal Muscular Atrophy (IASMA) and the International SMA Patient Registry www.jtsma.org.uk   (203 words)

AmSMART American Spinal Muscular Atrophy Randomized Trials   (Site not responding. Last check: 2007-10-24) 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. 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. www.amsmart.org   (110 words)

ClinicalTrials.gov - Information on Clinical Trials and Human Research Studies: Trial List Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) clinicaltrials.gov /search/term=Spinal+Muscular+Atrophy   (177 words)

Spinal Muscular Atrophy - Families of SMA Home Page First evidence of in vivo elevation of the SMN RNA/protein in SMA carriers and patients treated with valproic acid Information in the FSMA Web site is for informational, educational and entertainment purposes only, and is not intended to replace, and should not be interpreted or relied upon as, professional advice. If your child is newly diagnosed with SMA, please see Coping with a Diagnosis of SMA for help. www.fsma.org   (261 words)

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