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Topic: Spinal muscular atrophy type 1

	MedlinePlus: Spinal Muscular Atrophy
		The primary NIH organization for research on Spinal Muscular Atrophy is the National Institute of Neurological Disorders and Stroke
		Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in your spinal cord.
		Swallowing or Chewing Problems(Families of Spinal Muscular Atrophy)
	www.nlm.nih.gov /medlineplus/spinalmuscularatrophy.html (284 words)

	eMedicine - Spinal Muscular Atrophy : Article by Bryan Tsao, MD
		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 (5281 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 caused by a mutation in the VAPB gene.
	ghr.nlm.nih.gov /condition=spinalmuscularatrophy (1027 words)

	Spinal Muscular Atrophy - Health Centers
		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.theksbwchannel.com /encyclopedia/6861351/detail.html (632 words)

	Spinal muscular atrophy: Encyclopedia of Genetic Disorders
		Spinal muscular atrophy (SMA) is a disease characterized by degradation of the anterior horn cells of the spinal cord and has similar characteristics to Spinobulbar muscular atrophy (SBMA).
		Spinal muscular atrophy (SMA) arises primarily from degradation of the anterior horn cells of the spinal cord, resulting in proximal weakness and atrophy of voluntary skeletal muscle.
		"The neurobiology of childhood spinal muscular atrophy." Neurobiology of Disease 3 (1996): 97-110.
	health.enotes.com /genetic-disorders-encyclopedia/spinal-muscular-atrophy (1692 words)

	Spinal muscular atrophy: Spinal Muscular Atrophy Type 1 - ) at The Medical Dictionary
		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.
		Type 2 SMA, or intermediate SMA, describes those children who are never able to stand and walk, but who are able to maintain a sitting position at least some time in their life.
	www.the-medical-dictionary.com /spinal_muscular_atrophy_article_3.htm (3646 words)

	Dr. John R. Bach - The DMD Doc
		Autosomal recessive spinal muscular atrophy (SMA) is the most common inherited neuromuscular disease of the floppy newborn and along with Duchenne muscular dystrophy, one of the two most commonly inherited neuromuscular diseases.
		Eleven consecutively referred SMA type 1 children in respiratory failure were managed as per a protocol (Table 1) that was approved by our Institutional Review Board.
		It is appropriate for SMA type 1 children to nocturnally use high span bi-level positive airway pressure to prevent pectus excavatum and promote more normal lung growth.
	www.doctorbach.com /sma.htm (3358 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.tripdatabase.com /spider.html?itemid=276641 (591 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 (4583 words)

	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.
	www.chw.org /display/PPF/DocID/22519/router.asp (759 words)

	BBC - Health - Conditions - Spinal muscular atrophy
		Spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the anterior horn.
		There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life.
		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.bbc.co.uk /health/conditions/spinalmuscularatrophy1.shtml (557 words)

	Spinal Muscular Atrophy: The Center for Noninvasive Mechanical Ventilation Alternatives and Pulmonary Rehabilitation at ...
		Autosomal recessive spinal muscular atrophy (SMA) is the most common inherited neuromuscular disease of the floppy newborn and along with Duchenne muscular dystrophy, one of the two most commonly inherited neuromuscular diseases.
		It is appropriate for SMA type 1 children to nocturnally use high span bi-level positive airway pressure to prevent pectus excavatum and promote more normal lung growth.
		Tracheostomy IPPV has permitted children with SMA type 1 to survive more than 4 years.14 While "do not resuscitate" may be an acceptable alternative to tracheostomy for some parents, noninvasive ventilation can prolong life,6 is more desirable than tracheostomy,15 and in our experience, has not been refused.
	www.theuniversityhospital.com /ventilation/html/selectedstudies/studymuscular.htm (5529 words)

	SPINAL MUSCULAR ATROPHY (Site not responding. Last check: 2007-10-19)
		In juvenile spinal muscular atrophy children are able to walk, although with difficulty.
		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)

	There are other ways to manage spinal muscular atrophy type 1 CHEST - Find Articles (Site not responding. Last check: 2007-10-19)
		The authors" type 3 is "for onset after the age of walking"; however, it is not uncommon for these children to be symptomatic in infancy but then never sit or walk, sit, or even begin walking at age 3 years.
		Their "intermediate type 1" patients who can "raise their heads," many of whom, no doubt, can sit, would be classified as being type 2 by the majority of clinicians today.
		This is important because their "type 1 intermediates," shown in Figure 1 of their article, have vital capacities (VCs) as high as 75% of normal.
	www.looksmartdiseases.com /p/articles/mi_m0984/is_4_127/ai_n13662823 (745 words)

	Spinal Muscular Atrophy type I - WrongDiagnosis.com
		A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles.
		Spinal Muscular Atrophy type I is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		Prevalence and Incidence of Spinal Muscular Atrophy type I
	www.wrongdiagnosis.com /s/spinal_muscular_atrophy_type_i/intro.htm (676 words)

	Genes at Work - Lab Testing
		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.
		The presence of one or two copies of the SMN gene is found in 80% of patients with Type 1 SMA.
	www.umdnj.edu /genesatwork/labtesting/38_spinal_muscular_atrophy.html (570 words)

	MedlinePlus Medical Encyclopedia: 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.nlm.nih.gov /medlineplus/ency/article/000996.htm (515 words)

	About S.M.A ...
		Children with Type 1 tend to be more weak and lack motor development, rendering movement difficult.
		Children afflicted with Type 1 cannot sit unaided and have trouble breathing, sucking and swallowing.
		Type 2 patients may be able to sit unaided or even stand with support and usually do not suffer from feeding and swallowing difficulties.
	sierrasjourney.com /_wsn/page3.html (291 words)

	Spinal Muscular Atrophy (SMA) Type 1
		Type I SMA was initially described by Drs.
		Weakness in the arms and legs makes it difficult for the children to roll over and children with Type I SMA are never able to sit without assistance.
		However, a small number of children with Type I SMA may survive into their teens or early adulthood.
	www.fightsma.org /index.php?spinal-muscular-atrophy-type-1 (430 words)

	Werdnig-Hoffman Syndrome - Patient UK
		Synonyms: Spinal muscular atrophy type 1, SMA type 1, infantile spinal muscular atrophy.
		Werdnig-Hoffman disease is a rare form of spinal muscular atrophy presenting in infants.
		Werdnig-Hoffman describes a sub-set of spinal muscular atrophy (SMA) and is distinguished by the age at presentation (before 6 months) and severity (death from respiratory failure, typically by the age of 2).
	www.patient.co.uk /showdoc/40001509 (937 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.
		Fasciculation 1 year, unable to use hand to write, atrophy with right forearm muscle, atrophy of the interosseous muscles of the hand, atrophy with the thenar and hypothenar.
	www.damo-qigong.net /treat/myelophathy/SMA.htm (1855 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)

	Foundation
		Spinal Muscular Atrophy (SMA) Type 1 is the most common fatal genetic disorder of infancy.
		It is an inherited neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei, causing severe muscle weakness.
		Providing time and effort to help in distributing information about Spinal Muscular Atrophy Type I. Providing access to a network of parents that have gone through the nightmare of losing a child to SMA Type I. As the SMA Type 1 progresses the muscles involved in swallowing and voiding become severely involved.
	www.wkswithsma.com /foundation.htm (383 words)

	Gene discovery may shed light on carpel tunnel syndrome and Lou Gehrig's disease
		As atrophy progresses, the patient develops a distinct walk, a consequence of muscle weakness in the front of the leg: the feet slap with each step and the body may sway from side to side.
		All types of SMA are due to the degeneration of nerve cells within the spinal cord, as opposed to degeneration of the peripheral nerves.
		Distal spinal muscular atrophy (dSMA) disease is a type of SMA that affects the hands and the feet.
	www.eurekalert.org /pub_releases/2003-04/nhgr-gdm042803.php (1143 words)

	Spinal Muscular Atrophy :: Muscle Diseases
		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.
		She is in a clinical study at Stanford for SMA type.
		Spinal Muscular Atrophy Foundation - Information on SMA, and the latest updates in research, treatment and funding.
	www.gourt.com /Health/Conditions-and-Diseases/Neurological-Disorders/Muscle-Diseases/Spinal-Muscular-Atrophy.html (619 words)

	Muscular Dystrophy Campaign
		The Muscular Dystrophy Campaign covers over 60 different neuromuscular disorders, NMDs, including, as in the case of baby MB, spinal muscular atrophy.
		Decisions such as these are never easy, but we are pleased to see that the parents’ love and dedication for their child has been recognised by the court’s verdict, refusing to allow doctors to withdraw life support.
		As a charity the Muscular Dystrophy Campaign aims to provide information and advice for all of our members and wherever possible support them when they are dealing with emotive and challenging situations like this.
	www.muscular-dystrophy.org /news/new_statement.html (275 words)

	Northwestern University Medical School Neuromuscular Disorder Program (Site not responding. Last check: 2007-10-19)
		Spinal Muscular Atrophy Type 1 (SMA Type 1)
		Spinal Muscular Atrophy Type 2 (SMA Type 2)
		Spinal Muscular Atrophy Type 3 (SMA Type 3)
	www.neurogenetics.northwestern.edu /index.jsp?ca=patienthome&mp=patient\|amyotrophic (240 words)

	Go Garage Hopping for the Gift of Life
		Samantha was born with Type 1 Spinal Muscular Atrophy.
		Type 1 is the most severe kind of this genetic disease that destroys the muscles through atrophy due to lack of nerve control from the spine.
		SMA is the number one genetic killer of children under the age of 2 yet gets little media attention or funding for research towards effective treatment or a cure.
	www.smasupport.com /NewsArticles/samanthadodaro7.htm (558 words)

	Hereditary Neuropathies: Peripheral Nerve Disorders: Merck Manual Home Edition
		Charcot-Marie-Tooth disease (peroneal muscular atrophy) is a hereditary neuropathy in which the muscles of the lower legs become weak and waste away (atrophy).
		Most types of the disease are inherited as an autosomal (not sex-linked) dominant trait: only one gene from one parent is required for the disease to develop.
		In one subtype of type 1, males have severe symptoms, and females have mild symptoms or may be unaffected.
	www.merck.com /mmhe/au/sec06/ch095/ch095i.html (579 words)

	Conor Durkin-O'Brien
		Spinal Muscular Atrophy is the No 1 genetic killer of children under the age of 2 years old and whilst you are likely ignorant of the matter right now, the family and friends of young Conor had to learn fast.
		The reason for this was that I was diagnosed with SMA Type 1.
		Spinal Muscular Atrophy Type 1 (also known as Werdnig Hoffman Syndrome) is a hereditary condition causing weakness of the muscles, it is onset shortly before or after birth and babies with this condition do not usually survive past two years old, approximately 80% die before they are twelve months old.
	www.kirkbytimes.co.uk /news_items/2003_news/conor.html (850 words)

	NCPAD:Health Promotion: Nutrition Spotlight: Nutrition Suggestions for Spinal Muscular Atrophy
		Spinal muscular atrophy (SMA) is a genetic disorder affecting the part of the nervous system that controls our voluntary muscle movement.
		SMA is usually divided into three categories: Type 1 is the most severe with the earliest age of onset, Type 3 is the least severe with the latest age of onset, and some doctors have added Type 4 for moderate or mild SMA that begins in adulthood.
		Children with type I and some with type II SMA may have special nutritional needs due to chewing and weakness of swallowing muscles.
	www.ncpad.org /nutrition/fact_sheet.php?sheet=445§ion=2396 (596 words)

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