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Topic: Infantile spinal muscular atrophy

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	Fight SMA / Spinal Muscular Atrophy Merchandise
		Thank you for supporting the fight against spinal muscular atrophy.
		Your purchase of FightSMA merchandise is partially tax-deductible and will assist in the advancement of much-needed medical research for this devastating juvenile neuromuscular disease.
		Click here to download a Word document of the order form.
	fightsma.org /index.php?merchandise (401 words)

	Infantile 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.
		SMA type 1, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life with the inability to ever maintain an independent sitting position.
		Spinal muscular atrophy is the second most common lethal, autosomal recessive disease in Caucasians.
	en.wikipedia.org /wiki/Infantile_spinal_muscular_atrophy (1527 words)

	Infantile spinal muscular atrophy (Site not responding. Last check: )
		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.
		Infantile SMA is the most severe form some of the symptoms include: muscle weakness, poor muscle tone, weak cry, limpness or a tendency to flop, difficulty sucking or swallowing, and accumulation of secretions in the lungs or throat.
		Spinal muscular atrophy is the second most common lethal, autosomal recessive disease in Caucasians (16).
	www.bopedia.com /en/wikipedia/i/in/infantile_spinal_muscular_atrophy.html (1114 words)

	The Spinal Muscular Atrophies \| MDA Research
		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)

	Infantile spinal muscular atrophy (Site not responding. Last check: )
		Spinal muscular atrophies are categorised by the age of onset.
		Spinal muscular atrophies (SMA) are categorised by the age of onset.
		Infantile SMA is caused by a faulty gene.
	www.betterhealth.vic.gov.au /bhcv2/bhcarticles.nsf/pages/Infantile_spinal_muscular_atrophy?OpenDocument (562 words)

	healthfinder® — Families of Spinal Muscular Atrophy - SMA
		Families of Spinal Muscular Atrophy was founded to support families with members suffering from the condition and to promote research into treatments for spinal muscular atrophy (SMA).
		Spinal muscular atrophy is a group of diseases which affect all age groups, from newborns to adults.
		The diseases included under spinal muscular atrophy are: Infantile Progressive Spinal Muscular Atrophy (Werdnig-Hoffmann Disease), Juvenile Progressive Spinal Muscular Atrophy (Kugelberg-Welander Disease), and Adult Progressive Spinal Muscular Atrophy (Aran-Duchenne Type).
	www.healthfinder.gov /orgs/HR2292.htm (129 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 (4579 words)

	SMA in Scientific Terms
		Muscles weaken and waste away (atrophy) due to degeneration of anterior horn cells or motor neurons which are nerve cells in the spinal cord.
		In juvenile spinal muscular atrophy children are able to walk, although with difficulty.
		It is very rare for Spinal Muscular Atrophy to begin between the ages of 18 and 30.
	www.smasupport.com /scientific_version.htm (1007 words)

	Arthrogryposis Multiplex Congenita
		Arthrogryposis multiplex congenita occurs in 10% to 20% of neonates with infantile spinal muscular atrophy.
		Deoxyribonucleic acid studies for infantile spinal muscular atrophy should be performed in neonates with unexplained arthrogryposis.
		The prognosis of arthrogryposis due to infantile spinal muscular atrophy is poor.
	www.pediatricneuro.com /alfonso/pg163.htm (281 words)

	What is Spinal Muscular Atrophy?
		Others are atrophies, wasting arising from a disorder originating in the nerve system which causes loss of the ability to use muscles.
		There are three types of childhood Spinal Muscular Atrophy and one adult form, classified in terms of the age at which weakness becomes obvious and the severity of its progression.
		Spinal muscular atrophy is more accurately described as a "nerve" disease than a "muscle" disease.
	www.geocities.com /sma4mel/smafaq.html (2246 words)

	Families of SMA: Spinal Muscular Atrophy Research (Site not responding. Last check: )
		Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome.
		Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy http://www.ncbi.nlm.nih.gov/entrez/queryd.fcgi?
		Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy.
	www.fsma.org /research_list.shtml (2990 words)

	Clinical and molecular diagnosis of spinal muscular atrophy. Panigrahi I, Kesari A, Phadke SR, Mittal B Neurol India
		The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness.
		The spinal muscular atrophies (SMAs) represent a heterogeneous group of diseases with predominantly autosomal recessive inheritance, characterized by degeneration of motor neurons in the anterior horn cells of the spinal cord and the brainstem.
		Pearn JH : Classification of spinal muscular atrophies.
	www.neurologyindia.com /article.asp?issn=0028-3886;year=2002;volume=50;issue=2;spage=117;epage=22;aulast=Panigrahi (2453 words)

	SPINAL MUSCULAR ATROPHY (Site not responding. Last check: )
		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)

	Werdnig Hoffman Disease
		Also known as Infantile Spinal Muscular Atrophy (SMA) Type I, the disorder is 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).
		Olivopontocerebellar Atrophy (OPCA) is a rare neurological disorder that is characterized by the degeneration of the cerebellar cortex.
		Identification and characterization of a spinal muscular atrophy-determining gene.
	hw.healthdialog.com /kbase/nord/nord36.htm (2268 words)

	eMedicine - Spinal Muscular Atrophy : Article by Bryan Tsao, MD (Site not responding. Last check: )
		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 (5311 words)

	Spinal Muscular Atrophy - Patient UK
		Autosomal Recessive Spinal Muscular Atrophy is the second most common lethal, autosomal recessive disease in Caucasians (after cystic fibrosis) with a carriage rate of approximately 1:50 (4-7 per 100,000 live births).
		Atrophy and weakness of proximal limb muscles, mainly the legs, is followed by distal involvement.
		Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
	www.patient.co.uk /showdoc/40002111 (1169 words)

	Survival Motor Neuron Gene Deletion in the Arthrogryposis Multiplex Congenita-Spinal Muscular Atrophy Association -- ...
		Recently, we have identified the survival motor neuron (SMN) gene as the SMA-determining gene, since it is either absent or interrupted in 90-100% of typical SMA patients (5, 6, 7) and patients retaining the gene carried intragenic SMN mutations (5, 7).
		Indeed, atypical forms of infantile SMA with cerebellar hypoplasia, pontocerebellar degeneration, multiple long bone fractures at birth or congenital heart defects (CHD) have been described and could represent separate entities with a different genetic basis (4, 9).
		Zeviani, and (1995) Identification and characterization of a spinal muscular atrophy-determining gene.
	www.jci.org /cgi/content/full/98/5/1130 (1577 words)

	atrophy muscular progressive
		This is due to atrophy, or degeneration, of the rods...
		The Jennifer Trust for Spinal Muscular Atrophy was founded in 1985 to offer information and support people with SMA and for their families.
		muscular atrophy (also known as Kennedy's disease) is a rare inherited neuromuscular disorder that causes progressive...
	www.uk20.co.uk /search.php?q=atrophy+muscular+progressive (367 words)

	atrophy on Encyclopedia.com
		Corticosteroid-induced skin atrophy is one of the well-known side effects of topical corticosteroids...
		ATROPHY [atrophy], diminution in the size of a cell, tissue, or organ from its fully developed normal size.
		Temporary atrophy may occur in muscles that are not used, as when a limb is encased in a plaster cast.
	www.encyclopedia.com /html/a1/atrophy.asp (317 words)

	Spinal Cord Diseases
		The spinal cord is the connection between the brain and all muscles of the body, with the exception of the cranial nerves to the head and neck.
		The spinal cord can be cut in an accident, compressed, destroyed by infection, damaged when its blood supply is cut off, or affected by diseases (such as spinal cord cysts, cervical spondylosis, or multiple sclerosis) that alter its nerve function.
		In spina bifida the spinal cord is almost always tethered or stuck to the spinal canal.
	www.healthinsite.gov.au /topics/Spinal_Cord_Diseases (340 words)

	Spinal Muscular Atrophy (Site not responding. Last check: )
		Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder of childhood, less...
		Spinal Muscular Atrophy Type I SMA also know as Werdnig-Hoffman or progressive infantile SMA Congenital loss of the anterior horn cells In most cases, it is an autosomal recessive defect on...
		Spinal Muscular Atrophy - The spinal muscular atrophies (SMAs) are a clinically and...
	www.health-nexus.com /spinal_muscular_atrophy1.htm (375 words)

	Spinal Muscular Atrophy
		Spinal muscular atrophy (SMA) is a genetic, motor neuron disease that is the second most common neuromuscular disorder of childhood, second only to Duchenne’s muscular dystrophy.
		It is characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells of the spinal cord.
		Like many other disorders, understanding and learning about spinal muscular atrophy are the most important tools with which to manage and prevent complications.
	www.clevelandclinic.org /health/health-info/docs/2000/2094.asp?index=8876 (877 words)

	Electrical inexcitability of nerves and muscles in severe infantile spinal muscular atrophy -- KUO et al. 67 (1): 122 ...
		Spinal muscular atrophy (SMA) is one of the most common fatal autosomal recessive disorders, characterised by progressive
		Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.
		Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
	jnnp.bmjjournals.com /cgi/content/full/67/1/122 (877 words)

	MDA Research \| Rehabilitation Management in Neuromuscular Disease
		Myotonic muscular dystrophy (MMD), an autosomal dominant multisystem hereditary muscular dystrophy with an incidence of 1 in 8,000, is characterized clinically by progressive, predominantly distal muscle weakness and myotonia.
		Profound shoulder girdle muscular atrophy and subluxation in an adult with facioscapulohumeral dystrophy.
		Spinal bracing has not been shown to be effective in preventing progression of scoliosis in NMD (48,49).
	www.mdausa.org /research/carter.html (7051 words)

	eMedicine - Spinal Muscle Atrophy : Article by Jose A Herrera-Soto, MD (Site not responding. Last check: )
		Background: Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease characterized by progressive hypotonia and muscular weakness.
		Werdnig, in 1890, and J. Hoffman, in 1891, reported cases of muscular dystrophy occurring in infants that were otherwise similar to cases of muscular dystrophy found in older children and adults (eg, Duchenne muscular dystrophy).
		Concomitant anterior spinal fusion to prevent crankshaft phenomenon is usually avoided, as the risk of potential problems of anterior spinal surgery in a patient with SMA outweighs the benefits.
	www.emedicine.com /orthoped/topic304.htm (3501 words)

	Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal ...
		Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance -- Courtens et al.
		Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
		Spinal muscular atrophy type I combined with atrial septal defect in three sibs.
	jmg.bmjjournals.com /cgi/content/full/39/1/74 (1947 words)

	Spinal Muscular Atrophy
		It is possible that the main title of the report Spinal Muscular Atrophy is not the name you expected.
		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).
		Spinal muscular atrophy is inherited as an autosomal recessive trait.
	www.webmd.com /hw/brain_nervous_system/nord1135.asp (587 words)

	Infantile spinal muscular atrophy (Site not responding. Last check: )
		It is when nerves fail to function normally and the muscle cells with which they are connected deteriorate.
		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.
		Due to molecular biology, There is a better understanding of Spinal Muscular Atrophies.
	infantile-spinal-muscular-atrophy.area51.ipupdater.com (841 words)

	Encyclopedia entries starting with INF (Site not responding. Last check: )
		Spinal muscular atrophy, as defined by international criteria, requires the w..
		Infantilism is the quality of imposing, pretending, or becoming an infant.
		In adult psychology and sexuality, infantilism is a type of sexual roleplaying that may..
	encycl.opentopia.com /I/IN/INF (10299 words)

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