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Topic: Spinal muscular atrophy type 3


  
  Spinal muscular atrophy - Wikipedia, the free encyclopedia
Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.
The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases.
Spinal muscular atrophy is the second most common lethal, autosomal recessive disease in Caucasians.
en.wikipedia.org /wiki/Infantile_spinal_muscular_atrophy   (1519 words)

  
 Developmental and genetic diseases
SIANRF (Spinal muscular atrophy with respiratory distress 1 [4])
Spinal muscular atrophy with respiratory distress 1 [4]
Spinal muscular atrophy, diaphragmatic (Spinal muscular atrophy with respiratory distress 1 [4])
www.gfmer.ch /genetic_diseases_v2/index.php?disinit=S   (819 words)

  
 eMedicine - Spinal Muscular Atrophy : Article by Bryan Tsao, MD   (Site not responding. Last check: 2007-10-30)
SMA type I - Acute infantile or Werdnig-Hoffman disease
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 (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei.
SMA I (acute spinal muscular atrophy; Werdnig-Hoffmann disease).
Spinal muscular atrophy is inherited in an autosomal recessive manner.
www.geneclinics.org /profiles/sma/details.html   (4570 words)

  
 [No title]   (Site not responding. Last check: 2007-10-30)
Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement.
Type 1 SMA-Severe (Infantile SMA or Werdnig-Hoffmann Disease)
Type 4 SMA (Adult-Onset SMA) This is a still milder type of SMA on the continuum.
www.twu.edu /INSPIRE/Aquatics/spinalmuscularantrophy.htm   (956 words)

  
 Spinal muscular atrophy
Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.
Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease.
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)

  
 About Spinal Muscular Atrophy (SMA)   (Site not responding. Last check: 2007-10-30)
Spinal muscular atrophy is a term for a group of inherited neuromuscular diseases.
Types 1 and 3 are sometimes referred to by the names of the doctors who first described them.
Types 1, 2 and 3 appear to be variants of the same condition, because they all appear to arise from a defect in the same gene on chromosome 5.
www.smaangel.com /about.htm   (1415 words)

  
 Children's Orthopaedics
Spinal muscular atrophy (SMA) causes the muscles to weaken and waste away (atrophy) due to degeneration of nerve cells in the spinal cord (motor neurons).
Atrophy and weakness of proximal limb muscles, primarily in the legs, is followed by distal involvement.
Becker Muscular Dystrophy, one of the nine types of muscular dystrophies, is a degenerative disease primarily affecting voluntary muscles.
www.childrensorthopaedics.com /neuromuscular.html   (4459 words)

  
 Infantile spinal muscular atrophy
Spinal muscular atrophies are inherited disorders characterised by the deterioration of these motor neurones.
Spinal muscular atrophies are categorised by the age of onset.
Spinal muscular atrophies (SMA) are categorised by the age of onset.
www.disability.vic.gov.au /dsonline/dsarticles.nsf/pages/Infantile_spinal_muscular_atrophy?OpenDocument   (615 words)

  
 SMA in Laymen's Terms
Two major decisions must be made with Type I children...whether or not to insert a feeding tube to prevent pneumonia and prevent starvation when they have lost their ability to suck or swallow; and whether or not to put them on a ventilator or other breathing machine when they experience respiratory failure.
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.
Last but not least, the line between each Type of SMA is not clearly defined, and it is common for a child to exhibit patterns of two types, thus confusing the issue of "life expectancy" for that child.
www.smasupport.com /laymen_version.htm   (837 words)

  
 SPINAL MUSCULAR ATROPHY   (Site not responding. Last check: 2007-10-30)
Type 3 Milder Juvenile SMA, or Kugelberg-Welander disease
Intermediate spinal muscular atrophy is situated somewhere between the infantile and juvenile types in its age of onset and severity.
The distinction between the different types of SMA is not made from the tests but the age at which symptoms begin and the progress of the disorder over time gives clues.
www.mda.org.au /specific/mdasma.html   (2253 words)

  
 Infantile spinal muscular atrophy -
Spinal muscular atrophy, as defined by international criteria, requires the weakness to be symmetrical and greater in the proximal muscles than in the distal ones.
In a new study in mice, scientists found infantile spinal muscular atrophy that inserting extra copies of a specific gene helped the mice produce sufficient amounts of a protein called SMN (Survival Motor Neuron).
In 1990 mapping of the gene for SMA to chromosome 5q11.2-13.3 was reported and culminated in a 3 year research by the Muscular Dystrophy Association.
www.medicalgeo.com /Med-Diseases-I---K/Infantile-spinal-muscular-atrophy.html   (917 words)

  
 Genes at Work - Lab Testing   (Site not responding. Last check: 2007-10-30)
Spinal muscular atrophy (SMA) is the second most common autosomal recessive disorder in Caucasians with a carrier frequency of 1/35.
It is a progressive neuromuscular disease caused by degeneration of alpha motor neurons in the spinal cord causing atrophy of proximal muscles, paralysis, respiratory failure and early death.
Increasing numbers of SMN2 gene copies is correlated with less severe disease: 83% of patients with Type 2 SMA have 3 SMN2 gene copies and 94% of Type III patients have 3 or 4 SMN2 genes.
www.umdnj.edu /genesatwork/labtesting/38_spinal_muscular_atrophy.html   (570 words)

  
 ISNO Dutch Neuromuscular Research Support Centre - diagnoses
spinal muscular atrophy, type 1, mutation SMN gene, chrom.
spinal muscular atrophy, type 2, mutation SMN gene, chrom.
spinal muscular atrophy, type 3, mutation SMN gene, chrom.
www.isno.nl /registratie.php?id=30   (184 words)

  
 Northwestern University Medical School Neuromuscular Disorder Program   (Site not responding. Last check: 2007-10-30)
Spinal Muscular Atrophy Type 1 (SMA Type 1)
Onset is between birth and 3 months with rapid progression leading to early childhood death.
Spinal Muscular Atrophy Type 3 (SMA Type 3)
www.neurogenetics.northwestern.edu /index.jsp?ca=patienthome&mp=patient|amyotrophic   (240 words)

  
 Herbal Medicine for Treating Progressive Spinal Muscular Atrophy(SMA)
Spinal muscular atrophy (SMA) is a disease characterized by progressive degeneration of motor neurons in the spinal cord.
Spinal muscular atrophy (SMA) affects the nerves in an area of the spinal cord called the anterior horn.
Type I may begin before birth (lack of foetal movement in late pregnancy) or shortly afterwards, and an affected baby is rarely able to lift his head or develop normal movement.
www.damo-qigong.net /treat/myelophathy/SMA.htm   (1365 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.
Symptoms of SMA type III (Kugelberg-Welander disease) appear between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps, or rising from a chair; and slight tremor of the fingers.
Features of this type may include weakness of muscles in the tongue and face, difficulty swallowing, speech impairment, and excessive development of the mammary glands in males.
www.ninds.nih.gov /disorders/sma/sma.htm   (675 words)

  
 Spinal Muscular Atrophy - WrongDiagnosis.com
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.
Spinal Muscular Atrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
With a diagnosis of Spinal Muscular Atrophy, it is also important to consider whether there is an underlying condition causing Spinal Muscular Atrophy.
www.wrongdiagnosis.com /s/spinal_muscular_atrophy/intro.htm   (796 words)

  
 Spinal muscular atrophy - Detroit, Michigan
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.
Genetic counseling is recommended for prospective parents with a family history of spinal muscular atrophy.
The most severe form of spinal muscular atrophy is fatal early on.
www.henryfordhealth.org /138556.cfm   (456 words)

  
 Medical Dictionary: Spinal muscular atrophy, type 3 - WrongDiagnosis.com - WrongDiagnosis.com
Spinal muscular atrophy, type 3 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Spinal muscular atrophy, type 3, or a subtype of Spinal muscular atrophy, type 3, affects less than 200,000 people in the US population.
Spinal muscular atrophy, mild childhood and adolescent form
www.wrongdiagnosis.com /medical/spinal_muscular_atrophy_type_3_printer.htm   (217 words)

  
 Emory University Department of Pediatrics Neurology Division   (Site not responding. Last check: 2007-10-30)
Infantile Botulism is caused by Clostridium botulinum toxin inhibiting presynaptic release of Acetyl Choline.
The clinical onset is from 3 to 18 weeks of age presenting with hypotonia, weakness of head and neck muscles, hypo-reflexia, poor feeding and constipation.
The Muscular Dystrophy Association web site states they are "THE source for news and information about neuromuscular diseases, MDA research and services for adults and children with neuromuscular diseases and their families."
www.pediatrics.emory.edu /NEURO/ntsnm001.htm   (1451 words)

  
 Feline Spinal Muscular Atrophy -- IANNACCONE 57 (3): 322 -- Pediatric Research   (Site not responding. Last check: 2007-10-30)
Spinal muscular atrophy (SMA), OMIM #253300), is a neurodegenerative,
Birnkrant DJ, Pope JF, Martin JE, Repucci AH, Eiben RM 1998 Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.
Mailman MD, Heinz JW, Papp A, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW 2002 Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
www.pedresearch.org /cgi/content/full/57/3/322   (1238 words)

  
 Kugelberg Welander Syndrome
Kugelberg Welander syndrome is a type of spinal muscular atrophy.
Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5.
The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms as opposed to the genetic profile.
www.webmd.com /hw/health_guide_atoz/nord536.asp   (538 words)

  
 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.
Spine arthrodesis in patients with spinal muscular atrophy.
gait.aidi.udel.edu /res695/homepage/pd_ortho/educate/clincase/smaab.htm   (820 words)

  
 Spinal Muscular Atrophy:  Crystal Allbritton type 2, age 3   (Site not responding. Last check: 2007-10-30)
Age 3 years old with Spinal Muscular Atrophy type 2.
When she was 18 months old, I found out she was affected with SMA type II.
I will always appreciate any comments good or bad regarding her site, because your opinion is very valuable to me. But I also really frown upon the thought that I am an unusually smart, dedicated, or extraordinary mother in any way, because of the items in this site.
www.our-sma-angels.com /crystal   (1230 words)

  
 Spinal Muscular Atrophy Type 1: A Noninvasive Respiratory Management Approach -- Bach et al. 117 (4): 1100 -- Chest
SMA type 2 patients are much easier to manage by this protocol.
Zerres, K, Rudnik-Schoneborn, S (1995) Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications.
Birnkrant, DJ, Pope, JF, Martin, JE, et al (1998) Treatment of type 1 spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.
www.chestjournal.org /cgi/content/full/117/4/1100   (2924 words)

  
 Neuromuscular - Brain And Spine - Carolinas Healthcare
It also maintains a close liaison with the Muscular Dystrophy Association, which provides a large volume of patient education materials.
The Muscular Dystrophy Association (MDA) sponsors clinics on a weekly basis.
Juvenile spinal muscular atrophy (Type 3, Kugelberg-Welander disease)
www.carolinas.org /services/brainspine/neuromuscular.cfm   (782 words)

  
 Hereditary Motor Syndromes
Distal infantile spinal muscular atrophy with diaphragm paralysis (SMARD1)
Spinal muscular atrophy: Congenital, non-progressive, of lower limbs
Spinal muscular atrophy, type I, with congenital bone fractures
www.neuro.wustl.edu /neuromuscular/synmot.html   (3030 words)

  
 Families of Spinal Muscular Atrophy :: View topic - Newly Diagnosed Type 3
I found it quite hard to find other parents of type III kids after my son was diagnosed to chat with.
Physically he is a 3 respitory he is more of a 2 than a 3 that is why I say he is both.
My 5 year old son was diagnosed with type III at around 3 1/2 years of age after a lengthy period of diagnostic testing.
www.fsma.org /bbfsma/viewtopic.php?t=660&highlight=&sid=b3062aa29c56504221846ca483f733be   (825 words)

  
 Muscular Dystrophy Canada | Adult spinal muscular atrophy type IV (SMA4)
disorder name: Adult spinal muscular atrophy type IV disorder abbreviation: SMA4
Potential treatments for any genetic disorder would probably involve repairing or removing the gene product.
Spinal muscular atrophy (SMA) with upper limb predominance
www.muscle.ca /content/index.php?id=692   (156 words)

  
 Spinal muscular atrophy type 3 information Diseases Database   (Site not responding. Last check: 2007-10-30)
Spinal muscular atrophy type 3 information Diseases Database
Spinal muscular atrophy type 3: specific web sites.
Spinal muscular atrophy type 3 to medical search resources.
www.diseasesdatabase.com /ddb12315.htm   (92 words)

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