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   DiseasesDB    = 14093 |
   DiseasesDB    = 9820 |
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   ICD9          = {{ICD9|420.90}} |
   ICD9          = {{ICD9|335.0}}-{{ICD9|335.1}} |
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   OMIM          = 253300 |
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   MeshID        = D009134 |
   MeshName      = Spinal muscular atrophy |
   MeshNumber    = C14.280.720 |
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{{SI}}
{{Spinal Muscular Atrophy}}


{{CMG}}
'''For patient information click [[Spinal muscular atrophy (patient information)|here]]'''
 
'''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]]
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{{Editor Help}}
===[[Spinal Muscular atrophy overview | Overview]]===
===[[Spinal Muscular atrophy symptom| Symptom]]===
===[[Spinal Muscular atrophy diagnosis|Diagnosis]]===
===[[Spinal Muscular atrophy causes|Causes]]===
===[[Spinal Muscular atrophy types|Types]]===
===Caused by mutation of the SMN gene===
===Caused by mutation of the UBE1 gene on X Chromosome===
Infantile X-Linked SMA is similar to but distinguishable from Werdnig Hoffmann disease, manifested at or before birth in boys. Boys who inherit the gene usually die before age 2. Girls who inherit the gene are carriers, but are otherwise unaffected.
===[[Spinal Muscular atrophy statistic of forms SMA| Statistic of forms SMA]]===
Statistic of forms (from Patient Registry Report, compiled by Connie Garland for the SMA Registry, The International Coordinating Committee for clinical trials in SMA ):
* Families: 1,386
* Affected Individuals: 1,535
:*Affected Females – 759
:*Affected Males – 776
:*Deceased – 242
:*Living – 1,293
* Type of SMA
:*Type 1 – 489
:*Type 2 – 511
:*Type 3 – 315
:*Adult Onset – 37
:*[[Kennedy's disease]] – 7
:*Unknown – 176


===[[Spinal Muscular atrophy other forms of SMA| Other forms of SMA]]===
'''''Synonyms and keywords:''''' Werdnig-Hoffman, Intermediate SMA, Kugelberg-Welander


Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined. All forms of SMA have in common weakness caused by denervation, that is,  the muscle atrophies because it has lost the signal to contract due to loss of the innervating nerve. Spinal muscular atrophy only affects motor nerves. Heritable disorders that cause both weakness due to motor denervation along with sensory impairment due to sensory denervation are known by the inclusive label [[Charcot-Marie-Tooth]] or Hereditary Motor Sensory Neuropathy. The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord.
==[[Spinal muscular atrophy overview | Overview]]==


* Hereditary Bulbo-Spinal SMA [[Kennedy's disease]] (X linked, Androgen receptor)
==[[Spinal muscular atrophy epidemiology and demographics| Epidemiology and Demographics]]==
* Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) (chromsome 11, IGHMBP2 gene)
* Distal SMA with upper limb predominance ([[chromosome 7 (human)|chromosome 7]], glycyl tRNA synthase)
* X-Linked infantile SMA (gene UBE1)<ref>[http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00015-8 AJHG - Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy<!-- Bot generated title -->]</ref><ref>[http://health.usnews.com/usnews/health/healthday/080110/years-long-search-unlocks-deadly-genetic-disease.htm Years-Long Search Unlocks Deadly Genetic Disease<!-- Bot generated title -->]</ref>


===[[Spinal Muscular atrophy treatment | Treatment]]===
==[[Spinal muscular atrophy risk factor|Risk Factors]]==


The course of SMA is directly related to the severity of weakness. Infants with the severe form of SMA frequently succumb to respiratory disease due to weakness of the muscles that support breathing. Children with milder forms of SMA naturally live much longer although they may need extensive medical support, especially those at the more severe end of the spectrum.
==[[Spinal muscular atrophy screening | Screening]]==


Although gene replacement strategies are being tested in animals, current treatment for SMA consists of prevention and management of the secondary effect of chronic motor unit loss. It is likely that gene replacement for SMA will require many more years of investigation before it can be applied to humans.  Due to [[molecular biology]], there is a better understanding of SMA. The disease is caused by deficiency of SMN (survival motor neuron) protein, and therefore approaches to developing treatment include searching for drugs that increase SMN levels, enhance residual SMN function, or compensate for its loss. 
==[[Spinal muscular atrophy other forms | Other forms]]==


Much can be done for SMA patients in terms of medical and in particular respiratory, nutritional and rehabilitation care.  However, there is currently no drug known to alter the course of SMA.  Significant progress has been made in preclincial research towards an effective treatment.  Several drugs have been identified in laboratory experiments that hold promise for patients.  To evaluate if these drugs benefit SMA patients, clinical trials are needed.  In a clinical trial a new medication is tested while the patients are carefully monitored for their safety and for any possible drug effects, positive or negative.   
==[[Spinal muscular atrophy molecular biology|Molecular Biology]]==


Some drugs under clinical investigation for the treatment of SMA:
==[[Spinal muscular atrophy genetics|Genetics]]==
* [[Butyrates]]
* [[Valproic acid]]
* [[Hydroxyurea]]
* [[Riluzole]]


===[[Spinal Muscular atrophy research|Research]]===
==[[Spinal muscular atrophy types|Types]]==


==[[Spinal muscular atrophy diagnosis|Diagnosis]]==


In 1978 Pearn published a series of papers on SMA. He reported that childhood onset SMA is not an uncommon disease and has an incidence in the Northern UK in range of 4 per 100,000 births. At that time the association between the severe infantile form of SMA and the milder forms was not understood. With the advantage of knowledge about the causative gene, it is now known that SMA1, SMA2 and SMA3 are all caused by mutations in the same gene. The overall incidence of SMA, of all types, is in the range of 1 per 6,000 individual. It affects individuals of all races, unlike other well known autosomal recessive disorders like sickle cell disease, and cystic fibrosis, that have significant differences in occurrence rate between races. Overall, SMA1 is the most common genetic cause of death in infants.
==[[Spinal muscular atrophy full differential diagnosis|Full Differential Diagnosis]]==


The autosomal recessive versions of SMA are caused by inheritance of a mutated gene from each parent, who would not know that they have the abnormal gene because having only one mutated copy produces no symptoms. Once a child is affected, each subsequent baby has a 25% chance of having the illness. If a sibling does not inherit the disorder, he or she has a 2/3 chance of being a carrier.
==[[Spinal muscular atrophy symptom| Symptom]]==


On the other hand, X-linked infantile SMA is passed from mothers only to sons.  Sons have a 50% chance of inheriting the defective gene from a mother who is a carrier and suffering the disease, while daughters have a 50% chance of becoming carriers without symptoms themselves.  Couples may want to have genetic counseling before deciding to have more children. Counseling is available to these families through the community.
==[[Spinal muscular atrophy treatment | Treatment]]==
[[Spinal muscular atrophy outcome measures|Outcome measures]]|[[Spinal muscular atrophy therapeutics development|Therapeutics development]]


In 1990 mapping of the gene for SMA to [[chromosome 5 (human)|chromosome 5]]q11.2-13.3 was reported and culminated in a 3 year research funded in part by the [[Muscular Dystrophy Association]]. The findings were also confirmed by French researchers. The identification of the gene for autosomal recessive SMA on chromosome 5q has allowed for prenatal diagnosis. Families who are at risk, or who have had a child with the diagnosis can have an [[amniocentesis]] done during pregnancy for DNA testing.
==[[Spinal muscular atrophy research|Research]]==


==References==
==References==
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* [http://www.smatrust.org SMA Trust] - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
* [http://www.smatrust.org SMA Trust] - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
* [http://www.jtsma.org.uk Jennifer Trust for Spinal Muscular Atrophy] - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition
* [http://www.jtsma.org.uk Jennifer Trust for Spinal Muscular Atrophy] - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition
{{Diseases of the nervous system}}
{{SIB}}


[[Category:Motor neuron disease]]
[[Category:Motor neuron disease]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Pediatrics]]
[[Cateogry:Neurology]]


[[da:Spinal muskulær atrofi]]
[[da:Spinal muskulær atrofi]]

Latest revision as of 12:11, 26 August 2012

Spinal muscular atrophy
ICD-10 I01.0, I09.2, I30-I32
ICD-9 420.90
DiseasesDB 9820
MeSH muscular atrophy&field=entry#TreeC14.280.720 C14.280.720

Spinal Muscular Atrophy Microchapters

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Overview

Epidemiology and Demographics

Risk Factors

Screening

Other forms

Molecular Biology

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Types

Diagnosis

Diagnosis

Full Differential Diagnosis

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Indications For Surgery

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Ongoing Trials on Spinal muscular atrophy at Clinical Trials.gov

US National Guidelines Clearinghouse on Spinal muscular atrophy

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CDC on Spinal muscular atrophy

Spinal muscular atrophy in the news

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Risk calculators and risk factors for Spinal muscular atrophy

For patient information click here

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS


Synonyms and keywords: Werdnig-Hoffman, Intermediate SMA, Kugelberg-Welander

Overview

Epidemiology and Demographics

Risk Factors

Screening

Other forms

Molecular Biology

Genetics

Types

Diagnosis

Full Differential Diagnosis

Symptom

Treatment

Outcome measures|Therapeutics development

Research

References

External links

  • Template:NINDS
  • SMA Support
  • Spinal Muscular Atrophy - Fight SMA - An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy. Visit Fight SMA's website and also the Spinal Muscular Atrophy Blog for the latest news and research information about the leading genetic killer of children under two.
  • Families of Spinal Muscular Atrophy - An international nonprofit dedicated to advancing research and supporting individuals and families with sma. FSMA has a web site with news, information and message boards for individuals to post questions. FSMA is one of the largest US private funders of SMA research and has more than 30 chapters worldwide.FSMA
  • SMA Trust - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
  • Jennifer Trust for Spinal Muscular Atrophy - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition

Cateogry:Neurology

da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi


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