Spinal muscular atrophy

Common Name(s)

Spinal muscular atrophy, Spinal Muscular Atrophy (SMA), Spinal Muscular Dystrophy

Spinal muscular atrophy affects the control of muscle movement. The cause is the loss of specific motor neurons that are located in the spinal cord and the region of the brain linked to the spinal cord. The loss of these motor neurons results in the weakness of the muscles needed for movement. In more severe cases of spinal muscular atrophy, the muscles for speech and swallowing might be impaired. Different types of spinal muscular atrophy are classified depending on the severity of loss of muscle function, and the age when muscle weakness first began.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Children with Spinal Muscular Atrophy

Our mission is to support families and individuals and to provide information for everyone affected by or involved with Spinal Muscular Atrophy.

Last Updated: 29 Apr 2014

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Claire Altman Heine Foundation, Inc.

The Claire Altman Heine Foundation uses its funding to identify carriers of spinal muscular atrophy (SMA), support population-based SMA carrier testing, raise awareness of the need for SMA carrier screening and educate the public and medical communities about carrier screening for SMA.

Last Updated: 8 Nov 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Families of Spinal Muscular Atrophy

Families of SMA funds and directs the leading SMA research programs to develop a treatment and cure for the disease. The successful results and progress that the organization has delivered, from basic research to drug discovery to clinical trials, provide real hope for families and patients impacted by the disease. The charity has invested over $50 million in research and been involved in funding half of all the ongoing novel drug programs for SMA.

Last Updated: 4 Mar 2013

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FightSMA

FightSMA is a US-based international nonprofit organization working to find a cure for Spinal Muscular Atrophy (SMA), a neuromuscular disease that is the leading inherited killer of children under two.

Last Updated: 26 Jun 2013

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Getty Owl Foundation

To spread awareness, advocate and support affected families, and raise funds for research for Spinal Muscular Atrophy, the #1 genetic killer of young children.

Last Updated: 1 Mar 2013

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Gwendolyn Strong Foundation

The Gwendolyn Strong Foundation (theGSF) is a nonprofit organization dedicated to increasing global awareness of Spinal Muscular Atrophy (SMA), the #1 genetic killer of young children, accelerating research focused on ending this cruel disease, and supporting families impacted by SMA and other life-altering conditions. theGSF is an all volunteer organization, meaning 100% of your donation goes toward fulfilling our mission.

Last Updated: 19 Feb 2013

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 8 Mar 2010

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Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

Last Updated: 21 May 2010

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Spinal Muscular Atrophy Foundation

The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.

Last Updated: 18 Feb 2010

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The Jennifer Trust for Spinal Muscular Atrophy

We inform, support and empower families and individuals affected by all forms of SMA and raise awareness of the condition. We also fund and support the research community addressing the causes, treatment and management of SMA.

Last Updated: 24 Apr 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Children with Spinal Muscular Atrophy

Our mission is to support families and individuals and to provide information for everyone affected by or involved with Spinal Muscular Atrophy.

http://www.csma.org.ua

Last Updated: 29 Apr 2014

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Claire Altman Heine Foundation, Inc.

The Claire Altman Heine Foundation uses its funding to identify carriers of spinal muscular atrophy (SMA), support population-based SMA carrier testing, raise awareness of the need for SMA carrier screening and educate the public and medical communities about carrier screening for SMA.

http://www.preventsma.org

Last Updated: 8 Nov 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Families of Spinal Muscular Atrophy

Families of SMA funds and directs the leading SMA research programs to develop a treatment and cure for the disease. The successful results and progress that the organization has delivered, from basic research to drug discovery to clinical trials, provide real hope for families and patients impacted by the disease. The charity has invested over $50 million in research and been involved in funding half of all the ongoing novel drug programs for SMA.

http://www.fsma.org

Last Updated: 4 Mar 2013

View Details
FightSMA

FightSMA is a US-based international nonprofit organization working to find a cure for Spinal Muscular Atrophy (SMA), a neuromuscular disease that is the leading inherited killer of children under two.

http://www.fightsma.org/

Last Updated: 26 Jun 2013

View Details
Getty Owl Foundation

To spread awareness, advocate and support affected families, and raise funds for research for Spinal Muscular Atrophy, the #1 genetic killer of young children.

http://www.gettyowl.org

Last Updated: 1 Mar 2013

View Details
Gwendolyn Strong Foundation

The Gwendolyn Strong Foundation (theGSF) is a nonprofit organization dedicated to increasing global awareness of Spinal Muscular Atrophy (SMA), the #1 genetic killer of young children, accelerating research focused on ending this cruel disease, and supporting families impacted by SMA and other life-altering conditions. theGSF is an all volunteer organization, meaning 100% of your donation goes toward fulfilling our mission.

http://theGSF.org

Last Updated: 19 Feb 2013

View Details
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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

View Details
Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

http://www.mdachina.org

Last Updated: 21 May 2010

View Details
Logo
Spinal Muscular Atrophy Foundation

The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.

www.smafoundation.org

Last Updated: 18 Feb 2010

View Details
Logo
The Jennifer Trust for Spinal Muscular Atrophy

We inform, support and empower families and individuals affected by all forms of SMA and raise awareness of the condition. We also fund and support the research community addressing the causes, treatment and management of SMA.

http://www.jtsma.org.uk

Last Updated: 24 Apr 2013

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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General Resources

Updated 29 Nov 2012

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Population Statistics of SMA in the UK

Written for people diagnosed with Spinal Muscular Atrophy (SMA), their families, health care and allied professionals and members of the general public, to answer questions frequently asked about the incidence of SMA

Updated 17 Apr 2013

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What is SMA?

Provides a brief overview of the causes, effects and inheritance pattern of the 4 common forms of Spinal Muscular Atrophy. It includes a glossary of terms used in the sheet and sources of further information and support.

Updated 24 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spinal muscular atrophy" returned 428 free, full-text research articles on human participants. First 3 results:

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
 

Author(s): Pietro Fratta, Niranjanan Nirmalananthan, Luc Masset, Iwona Skorupinska, Toby Collins, Andrea Cortese, Sally Pemble, Andrea Malaspina, Elizabeth M C Fisher, Linda Greensmith, Michael G Hanna

Journal: Neurology. 2014 Jun;82(23):2077-84.

 

To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom.

Last Updated: 25 Jun 2014

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Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
 

Author(s): Thomas M Wishart, Chantal A Mutsaers, Markus Riessland, Michell M Reimer, Gillian Hunter, Marie L Hannam, Samantha L Eaton, Heidi R Fuller, Sarah L Roche, Eilidh Somers, Robert Morse, Philip J Young, Douglas J Lamont, Matthias Hammerschmidt, Anagha Joshi, Peter Hohenstein, Glenn E Morris, Simon H Parson, Paul A Skehel, Thomas Becker, Iain M Robinson, Catherina G Becker, Brunhilde Wirth, Thomas H Gillingwater

Journal: J. Clin. Invest.. 2014 Apr;124(4):1821-34.

 

The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development. Here, we determined that ubiquitin-dependent pathways regulate neuromuscular ...

Last Updated: 2 Apr 2014

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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
 

Author(s): Modibo Sangaré, Brant Hendrickson, Hammadoun Ali Sango, Kelian Chen, Jonathan Nofziger, Abdelbasset Amara, Amalia Dutra, Alice B Schindler, Aldiouma Guindo, Mahamadou Traoré, George Harmison, Evgenia Pak, Fatoumata N'Go Yaro, Katherine Bricceno, Christopher Grunseich, Guibin Chen, Manfred Boehm, Kristen Zukosky, Nouhoum Bocoum, Katherine G Meilleur, Fatoumata Daou, Koumba Bagayogo, Yaya Ibrahim Coulibaly, Mahamadou Diakité, Michael P Fay, Hee-Suk Lee, Ali Saad, Moez Gribaa, Andrew B Singleton, Youssoufa Maiga, Sungyoung Auh, Guida Landouré, Rick M Fairhurst, Barrington G Burnett, Thomas Scholl, Kenneth H Fischbeck

Journal: Ann. Neurol.. 2014 Apr;75(4):525-32.

 

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. ...

Last Updated: 6 May 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spinal muscular atrophy" returned 38 free, full-text review articles on human participants. First 3 results:

Antisense oligonucleotides for the treatment of spinal muscular atrophy.
 

Author(s): Paul N Porensky, Arthur H M Burghes

Journal: Hum. Gene Ther.. 2013 May;24(5):489-98.

 

Spinal muscular atrophy (SMA) is an autosomal recessive disease affecting ∼1 in 10,000 live births. The most striking component is the loss of α-motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no ...

Last Updated: 16 May 2013

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SMN-inducing compounds for the treatment of spinal muscular atrophy.
 

Author(s): Monique A Lorson, Christian L Lorson

Journal: Future Med Chem. 2012 Oct;4(16):2067-84.

 

Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. A neurodegenerative disease, it is caused by loss of SMN1, although low, but essential, levels of SMN protein are produced by the nearly identical gene SMN2. While no effective treatment or therapy currently ...

Last Updated: 19 Nov 2012

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Current status of treatment of spinal and bulbar muscular atrophy.
 

Author(s): Fumiaki Tanaka, Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Gen Sobue

Journal: Neural Plast.. 2012 ;2012():369284.

 

Spinal and bulbar muscular atrophy (SBMA) is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy of the bulbar, facial, and limb muscles pathologically associated with motor neuron loss in the spinal cord and brainstem. ...

Last Updated: 21 Jun 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Infants With Spinal Muscular Atrophy Type I
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 14 Mar 2014

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Palliative Care in Spinal Muscular Atrophy (SMA) 1
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy 1

 

Last Updated: 2 Aug 2013

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Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA)
 

Status: Not yet recruiting

Condition Summary: Infantile Spinal Muscular Atrophy of Type 2 or 3

 

Last Updated: 4 Mar 2014

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