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spinal muscular atrophy type 1 - inherited disorder with severe muscle weakness
Definition for spinal muscular atrophy type 1
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.
more
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.
Infantile SMA is the most severe form.
In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. 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.
less
some common symptoms
difficulty breathing
muscle weakness in leg(s)
proximal muscle weakness in arm(s)
weakness
some related diagnoses
1 - 7 of
84
diagnoses
Guillain-Barre Syndrome
hypokalemic periodic paralysis
spinal cord compression syndrome
myopathies
spinal cord tumors
systemic lupus erythematosis
limb girdle muscular dystrophies
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do i have 'spinal muscular atrophy type 1'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'spinal muscular atrophy type 1'
1 - 5 of
15
diagnostic tests
Molecular Genetic Studies
spinal muscular atrophy type 1 and Molecular Genetic Studies
Arterial Blood Gas
spinal muscular atrophy type 1 and Arterial Blood Gas
Cerebrospinal Fluid analysis
spinal muscular atrophy type 1 and Cerebrospinal Fluid analysis
ECHOcardiogram
spinal muscular atrophy type 1 and ECHOcardiogram
EKG
Electrocardiogram
spinal muscular atrophy type 1 and EKG
Electromyogram (EMG)
spinal muscular atrophy type 1 and Electromyogram (EMG)
Electron Microscopy
spinal muscular atrophy type 1 and Electron Microscopy
Muscle biopsy
spinal muscular atrophy type 1 and Muscle biopsy
Nerve conduction studies (NCS)
spinal muscular atrophy type 1 and Nerve conduction studies (NCS)
Pulse oximetry
Oximetry
spinal muscular atrophy type 1 and Pulse oximetry
Serum Creatine Kinase (CK)
spinal muscular atrophy type 1 and Serum Creatine Kinase (CK)
Amniocentesis
spinal muscular atrophy type 1 and Amniocentesis
Cardiac monitoring
spinal muscular atrophy type 1 and Cardiac monitoring
Urethral catheter
spinal muscular atrophy type 1 and Urethral catheter
motor evoked response
spinal muscular atrophy type 1 and motor evoked response
for more please login, login is free (click to login)
therapeutic procedures for 'spinal muscular atrophy type 1'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for spinal muscular atrophy type 1:
therapeutic procedure search results for 'spinal muscular atrophy type 1'
1 - 5 of
11
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
spinal muscular atrophy type 1 and Physical and Occupational Therapy
Bracing
spinal muscular atrophy type 1 and Bracing
splint
spinal muscular atrophy type 1 and splint
Orthopedic surgical care
spinal muscular atrophy type 1 and Orthopedic surgical care
spinal orthoses
spinal muscular atrophy type 1 and spinal orthoses
Chest physical therapy
spinal muscular atrophy type 1 and Chest physical therapy
Foley catheter
spinal muscular atrophy type 1 and Foley catheter
Transcranial magnetic stimulation
spinal muscular atrophy type 1 and Transcranial magnetic stimulation
Urethral catheter
spinal muscular atrophy type 1 and Urethral catheter
airway clearance
spinal muscular atrophy type 1 and airway clearance
canes and walkers
spinal muscular atrophy type 1 and canes and walkers
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medications search results for 'spinal muscular atrophy type 1'
rankings are computer generated. please consult your health care provider.
web search results for spinal muscular atrophy type 1
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Results
1 - 50
- spinal muscular atrophy type 1
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1 ...
... variability in distal spinal muscular atrophy type 1 (DSMA1): determination of ... Distal spinal muscular atrophy type 1 (DSMA1) is caused by mutations in the ...
http://www.ncbi.nlm.nih.gov/pubmed/18802676?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Spinal Muscular Atrophy -- GeneReviews -- NCBI Bookshelf
... D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. ... 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sma
www.ncbi.nlm.nih.gov
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summary
Spinal muscular atrophy - Wikipedia, the free encyclopedia
SMA Type 1 infants account for 60-70% of cases. ... Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) or "DSMA1" 604320. IGHMBP2 ...
http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
en.wikipedia.org
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MedlinePlus Medical Encyclopedia: Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a collection of different muscle diseases. ... The lifespan in SMA type 1 is seldom longer than 2 - 3 years. ...
http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm
www.nlm.nih.gov
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Spinal muscular atrophy
Spinal muscular atrophy is a group of inherited diseases that cause progressive ... Infants with SMA type 1 are born with very little muscle tone, weak muscles, and ...
http://adam.about.com/encyclopedia/infectiousdiseases/Spinal...
adam.about.com
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
... 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 ... to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) ...
http://www.ncbi.nlm.nih.gov/pubmed/18263757
www.ncbi.nlm.nih.gov
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summary
Spinal Muscular Atrophy
The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. ... spinalmuscularatrophy.html1http://clinicaltrials. ...
http://www.ninds.nih.gov/disorders/sma/xml_sma.xml
www.ninds.nih.gov
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SPINAL MUSCULAR ATROPHY - INTERMEDIATE FORM - Pedbase.org
1. Background. the Spinal Muscular Atrophies (SMA) are a group of inherited disorders in which ... Type II - Intermediate Form (Intermediate) ...
http://pedbase.org/s/spinal-muscular-atrophy_intermediate-form/
pedbase.org
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Spinal Muscular Atrophy
... Weaver B. Spinal muscular atrophy type 1: management and ... binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Spinal Muscular Atrophy. Spinal Muscular Atrophy Type 1. Spinal muscular atrophy type 3. Spinal Muscular Atrophy Type I. Spinal Muscular Atrophy Type III ...
http://www.webmd.com/a-to-z-guides/health-topics/sp-st.htm
www.webmd.com
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Werdnig Hoffman Disease - Yahoo! Health
Spinal Muscular Atrophy Type 1. Werdnig-Hoffman Paralysis. Disorder Subdivisions. None ... is also known as spinal muscular atrophy type 1 (SMA1) or acute ...
http://health.yahoo.com/nervous-overview/werdnig-hoffman-dis...
health.yahoo.com
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summary
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
... recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is ... with non-5q spinal muscular atrophy, neuropathy, and muscle weakness ...
http://www.ncbi.nlm.nih.gov/pubmed/14681881
www.ncbi.nlm.nih.gov
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Sma - NextBio
Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease ... Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice ...
http://www.nextbio.com/b/home/home.nb?q=SMA
www.nextbio.com
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summary
Spinal Muscular Atrophy, X-Linked Infantile -- GeneReviews -- NCBI ...
... with spinal muscular atrophy (pontocerebellar hypoplasia type 1) is ... Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sma-xli
www.ncbi.nlm.nih.gov
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summary
Charcot-Marie-Tooth disease - Genetics Home Reference
Type 1 is caused by mutations in the following genes: PMP22 (subtypes 1A and 1E) ... Review: Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V ...
http://ghr.nlm.nih.gov/condition=charcotmarietoothdisease
ghr.nlm.nih.gov
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Muscle Stimulation Disorders: Peripheral Nerve Disorders: Merck Manual ...
... · Plexus Disorders· Polyneuropathy· Spinal Muscular Atrophies· Thoracic Outlet Syndromes ... Progressive Muscular Atrophy: This disorder can develop at any age. ...
http://www.merck.com/mmhe/sec06/ch095/ch095b.html
www.merck.com
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Motor Neuron Diseases Fact Sheet: National Institute of Neurological ...
Spinal muscular atrophy (SMA) is a hereditary disease affecting the lower motor neurons. ... SMA type I, also called Werdnig-Hoffmann disease , is evident by ...
http://www.ninds.nih.gov/disorders/motor_neuron_diseases/det...
www.ninds.nih.gov
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[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]
... aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly ... recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and ...
http://www.ncbi.nlm.nih.gov/pubmed/18804971?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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summary
Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V ...
... Tooth neuropathy type 2D/distal spinal muscular atrophy V (CMT2D/dSMA ... individuals and below 1 mV in individuals having clinically evident leg atrophy. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmt2d
www.ncbi.nlm.nih.gov
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Motor Neuron Diseases Information Page: National Institute of ...
... varies depending on the type of MND and the age ... Tel: 1-877-SPF-GIVE (1-877-773-4483) Fax: 877-SPF-GIVE. Synapse: A PLS ... Spinal Muscular Atrophy ...
http://www.ninds.nih.gov/disorders/motor_neuron_diseases/mot...
www.ninds.nih.gov
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Respiratory failure in infants due to spinal muscular atrophy with ...
... in infants due to spinal muscular atrophy with respiratory distress type 1. ... BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is ...
http://www.ncbi.nlm.nih.gov/pubmed/16964485
www.ncbi.nlm.nih.gov
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Degenerative Nerve Diseases - Genetics Home Reference
neurofibromatosis type 1. neurofibromatosis type 2 ... spastic paraplegia type 7. spastic paraplegia type 8. spinal and bulbar muscular atrophy ...
http://ghr.nlm.nih.gov/conditionGroup=degenerativenervediseases
ghr.nlm.nih.gov
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Muscle Stimulation Disorders: Peripheral Nerve Disorders: Merck Manual ...
Brain, Spinal Cord, and Nerve Disorders. Subject. Peripheral Nerve Disorders ... Progressive Muscular Atrophy: This disorder can develop at any age. ...
http://www.merck.com/mmhe/print/sec06/ch095/ch095b.html
www.merck.com
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An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander ...
1: Neuropathology. 2009 Feb;29(1):63-7. Epub 2008 Apr 11. An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease) ...
http://www.ncbi.nlm.nih.gov/pubmed/18410269
www.ncbi.nlm.nih.gov
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Characterization of spinal motor neuron loss in a mouse model of Spinal ...
... spinal motor neuron loss in a mouse model of Spinal Muscular Atrophy ... Spinal Muscular Atrophy (SMA) is a neurodegenerative ... resembles type 1 SMA in ...
http://www.ninds.nih.gov/jobs_and_training/summer/2008_stude...
www.ninds.nih.gov
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Spinal muscular atrophy - Genetics Home Reference
Children with type II spinal muscular atrophy usually develop muscle weakness ... Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. ...
http://www.ghr.nlm.nih.gov/condition=spinalmuscularatrophy
www.ghr.nlm.nih.gov
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Hereditary Neuropathies: Peripheral Nerve Disorders: Merck Manual Home ...
peroneal muscular atrophy. polyneuropathy. porphyria. thoracic ... In milder subtypes of type 1, high arches and hammer toes may be the only symptoms. ...
http://www.merck.com/mmhe/sec06/ch095/ch095i.html
www.merck.com
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PMID 10767247
... Apr Chest Spinal muscular atrophy type 1: A noninvasive respiratory ... To determine whether spinal muscular atrophy (SMA) type 1 can be managed without ...
http://www.ncbi.nlm.nih.gov/pubmed/10767247
www.ncbi.nlm.nih.gov
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spinal muscular atrophy OR SMN - PubMed Result
Spinal Muscular Atrophy and a Model for Survival of Motor ... A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. Pediatr Neurol. ...
http://www.ncbi.nlm.nih.gov/pubmed?term=spinal+muscular+atrophy+OR+SMN
www.ncbi.nlm.nih.gov
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Orphanet: Proximal spinal muscular atrophy, type 1
The portal for rare diseases and orphan drugs ... Proximal spinal muscular atrophy, type 1. Orpha number. ORPHA83330. Prevalence of rare diseases ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83330
www.orpha.net
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Brain and nervous system - Genetics Home Reference
lissencephaly type 1 see X-linked lissencephaly ... spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem
ghr.nlm.nih.gov
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Spinal Muscular Atrophy Type 2 - Wikipedia, the free encyclopedia
Children with spinal muscular atrophy type 2 manifest less severe weakness than ... are similar to those found in children with Type 1; in fact, there are many ...
http://en.wikipedia.org/wiki/Spinal_Muscular_Atrophy_Type_2
en.wikipedia.org
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Acute respiratory insufficiency - NextBio
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. ... Spinal muscular atrophy with respiratory distress type 1 ...
http://www.nextbio.com/b/home/home.nb?q=Acute+respiratory+in...
www.nextbio.com
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Kennedy's Disease Press Releases: National Institute of Neurological ...
... type 1 (SCA1), has the same type of gene mutation occurring in ... very rare Kennedy's disease, also called X-linked spinobulbar muscular atrophy. ...
http://www.ninds.nih.gov/disorders/kennedys/press_kennedys.htm
www.ninds.nih.gov
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Introduction: Peripheral Nervous System and Motor Unit Disorders: Merck ...
Table 1. Causes of Peripheral Nervous System Disorders. Site. Type. Examples. Motor neuron* Inherited. Spinal muscular atrophy types I?IV. Acquired, acute ...
http://www.merck.com/mmpe/print/sec16/ch223/ch223a.html
www.merck.com
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An 11 base pair duplication in exon 6 of the SMN gene produces a type I ...
... gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to ... Muscular Atrophies of Childhood/genetics* Survival of Motor Neuron 1 ...
http://www.ncbi.nlm.nih.gov/pubmed/8922999
www.ncbi.nlm.nih.gov
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Medical considerations of long-term survival of Werdnig-Hoffmann disease.
... survival for Werdnig-Hoffman disease (spinal muscular atrophy type 1 [SMA 1] ... Spinal Muscular Atrophies of Childhood/complications ...
http://www.ncbi.nlm.nih.gov/pubmed/17449979
www.ncbi.nlm.nih.gov
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Neurologic Diseases - Genetics Home Reference
neurofibromatosis type 1. neurofibromatosis type 2. Niemann-Pick ... spastic paraplegia type 7. spinal and bulbar muscular atrophy. spinal muscular atrophy ...
http://ghr.nlm.nih.gov/medlineplusTopic=neurologicdiseases
ghr.nlm.nih.gov
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Werdnig-Hoffman disease - Wikipedia, the free encyclopedia
... most severe form of spinal muscular atrophy, which is one of a number of ... Spinal muscular atrophy type 1: A noninvasive respiratory management approach" ...
http://en.wikipedia.org/wiki/Werdnig-Hoffman_disease
en.wikipedia.org
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253300
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300
www.ncbi.nlm.nih.gov
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KUGELBERG-WELANDER DISEASE - Pedbase.org
1. Background. the Spinal Muscular Atrophies (SMA) are a group of inherited disorders in which ... fibre types with groups of normal or enlarged type 1 fibres ...
http://pedbase.org/k/kugelberg-welander-disease/
pedbase.org
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Congenital heart defects in spinal muscular atrophy type I: a clinical ...
1: Am J Med Genet A. 2008 Mar 15;146A(6):740-4. ... Spinal muscular atrophy type I (SMA I) was diagnosed by detecting a homozygous ...
http://www.ncbi.nlm.nih.gov/pubmed/18266240?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Hypotonia
... gravis. Myotonic dystrophy (a type of muscular dystrophy) ... Spinal muscular atrophy type 1 (Werdnig- Hoffman) Tay-Sachs disease. Trisomy 13. Vaccine reaction ...
http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm
www.nlm.nih.gov
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Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V ...
... Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V. Figure 1. Distribution of muscle weakness and atrophy in individuals with two major ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Mutations in the gene encoding immunoglobulin mu-binding protein 2 ...
... binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. ... Classic spinal muscular atrophy (SMA) is caused by mutations in the ...
http://www.ncbi.nlm.nih.gov/pubmed/11528396
www.ncbi.nlm.nih.gov
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List of diseases (S) - Wikipedia, the free encyclopedia
Spinal dysostosis type Anhalt. Spinal muscular atrophy type 1. Spinal muscular atrophy type 2 ... Spinal muscular atrophy type 3. Spinal muscular atrophy type ...
http://en.wikipedia.org/wiki/List_of_diseases_(S)
en.wikipedia.org
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PMID 17641258
... of 7 spinal muscular atrophy patients (6 type I and 1 severe type II) who ... with type I and 1 with severe type II spinal muscular atrophy were alive ...
http://www.ncbi.nlm.nih.gov/pubmed/17641258
www.ncbi.nlm.nih.gov
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Valproic Acid Shows Promise for Treating Spinal Muscular Atrophy ...
One of the first studies of valproic acid as a potential therapy for spinal ... Patients with SMA type III (Kugelberg-Welander disease) begin to experience ...
http://www.ninds.nih.gov/news_and_events/news_articles/news_...
www.ninds.nih.gov
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Neuromuscular Disorders - Genetics Home Reference
neurofibromatosis type 1. neuropathy, ataxia, and retinitis pigmentosa ... spastic paraplegia type 7. spastic paraplegia type 8. spinal and bulbar muscular atrophy ...
http://ghr.nlm.nih.gov/medlineplusTopic=neuromusculardisorders
ghr.nlm.nih.gov
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Identification of a candidate modifying gene for spinal muscular ...
Spinal muscular atrophy (SMA) is a common recessive disorder characterized by ... Survival of Motor Neuron 1 Protein. Substances: Cyclic AMP Response Element ...
http://www.ncbi.nlm.nih.gov/pubmed/9731538
www.ncbi.nlm.nih.gov
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