Spinal muscular atrophy

Common Name(s)

Spinal muscular atrophy, Spinal muscular atrophy (SMA), Spinal muscular dystrophy

Spinal muscular atrophy (SMA) is a genetic disorder that causes a child to lose a specific type of cell in their spinal cord (motor neurons) and a part of their brain that is connected to the spinal cord (brain stem). Without these important parts of the brain and spinal cord, an affected child loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). The most commonly affected muscles are in the shoulders, hips, and thighs, but muscles involved in breathing and swallowing can also be affected in severe cases. There are many different types of SMA, each with its own set of features and symptoms. These include SMA types I through IV, X-linked, spinal muscular atrophy lower extremity dominant (SMA-LED), and adult-onset spinal muscular atrophy. More information about each type is available under a separate disease description.

While every type of SMA is caused by a change (mutation) in a gene, not every type has the same genetic cause. A mutation in the SMN1 gene is the genetic cause of SMA types I through IV. A mutation in the UBA1 gene is the genetic cause for X-linked SMA. A mutation in the DYNC1H1 gene is the cause for SMA-LED and a mutation in the VAPB gene is the cause of adult onset SMA. Each of these genes provide instructions for the body to make a protein that helps motor neurons work. Motor neurons are cells that send signals from the brain to the muscles. When one of these genes has a mutation, the motor neurons do not work, which causes the symptoms of SMA.

SMA is considered in a baby or child who has muscle weakness and atrophy. Genetic testing is used to confirm the diagnosis. There is no cure for SMA and treatments for more severe symptoms, such as breathing and swallowing problems, can include devices to help breathing and feeding. If your child has been diagnosed with SMA, talk with your doctor about current treatment options. Support groups can provide more information and support.

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: 14 Jan 2015

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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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Cure SMA

Cure SMA leads the way to a world without spinal muscular atrophy, the number one genetic cause of death for infants. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide families the support they need for today.

Last Updated: 3 Sep 2014

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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: 15 Jul 2015

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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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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

View Details
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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: 14 Jan 2015

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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

View Details
Cure SMA

Cure SMA leads the way to a world without spinal muscular atrophy, the number one genetic cause of death for infants. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide families the support they need for today.

http://www.cureSMA.org

Last Updated: 3 Sep 2014

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
Logo
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: 15 Jul 2015

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
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
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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.

www.smafoundation.org

Last Updated: 18 Feb 2010

View Details
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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.

http://www.jtsma.org.uk

Last Updated: 24 Apr 2013

View Details
Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

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

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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publications

care series publications

Uploaded By: Cure SMA

Updated 3 Sep 2014

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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 452 free, full-text research articles on human participants. First 3 results:

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
 

Author(s): Mariacristina Scoto, Alexander M Rossor, Matthew B Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W C G Truus Overweg-Plandsoen, Frank Baas, J Paul Taylor, Michael Benatar, Anne M Connolly, Muhammad T Al-Lozi, John Nixon, Christian G E L de Goede, A Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W K Kling Chong, Eugenio Mercuri, Robert H Baloh, Mary M Reilly, Francesco Muntoni

Journal: Neurology. 2015 Feb;84(7):668-79.

 

To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.

Last Updated: 17 Feb 2015

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The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
 

Author(s): Hadar Vinograd-Byk, Tamar Sapir, Lara Cantarero, Pedro A Lazo, Sharon Zeligson, Dorit Lev, Tally Lerman-Sagie, Paul Renbaum, Orly Reiner, Ephrat Levy-Lahad

Journal: J. Neurosci.. 2015 Jan;35(3):936-42.

 

Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly. We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R358X, as a cause of SMA-PCH. VRK1-R358X ...

Last Updated: 22 Jan 2015

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Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.
 

Author(s): Chiara Scaramuzzino, Ian Casci, Sara Parodi, Patricia M J Lievens, Maria J Polanco, Carmelo Milioto, Mathilde Chivet, John Monaghan, Ashutosh Mishra, Nisha Badders, Tanya Aggarwal, Christopher Grunseich, Fabio Sambataro, Manuela Basso, Frank O Fackelmayer, J Paul Taylor, Udai Bhan Pandey, Maria Pennuto

Journal: Neuron. 2015 Jan;85(1):88-100.

 

Polyglutamine expansion in androgen receptor (AR) is responsible for spinobulbar muscular atrophy (SBMA) that leads to selective loss of lower motor neurons. Using SBMA as a model, we explored the relationship between protein structure/function and neurodegeneration in polyglutamine ...

Last Updated: 9 Jan 2015

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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 46 free, full-text review articles on human participants. First 3 results:

Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.
 

Author(s): Jonathan J Cherry, Dione T Kobayashi, Maureen M Lynes, Nikolai N Naryshkin, Francesco Danilo Tiziano, Phillip G Zaworski, Lee L Rubin, Jill Jarecki

Journal: Assay Drug Dev Technol. 2014 Aug;12(6):315-41.

 

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder resulting in degeneration of α-motor neurons of the anterior horn and proximal muscle weakness. It is the leading cause of genetic mortality in children younger than 2 years. It affects ∼1 in 11,000 live births. ...

Last Updated: 23 Aug 2014

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Advances in therapeutic development for spinal muscular atrophy.
 

Author(s): Matthew D Howell, Natalia N Singh, Ravindra N Singh

Journal: Future Med Chem. 2014 Jun;6(9):1081-99.

 

Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. The disease originates from low levels of SMN protein due to deletion and/or mutations of SMN1 coupled with the inability of SMN2 to compensate for the loss of SMN1. While SMN1 and SMN2 are nearly identical, ...

Last Updated: 29 Jul 2014

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Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA).
 

Author(s): Chiara Zanetta, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Irene Faravelli, Nereo Bresolin, Giacomo P Comi, Stefania Corti

Journal: J. Cell. Mol. Med.. 2014 Feb;18(2):187-96.

 

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of ...

Last Updated: 28 Jan 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Palliative Care in Spinal Muscular Atrophy (SMA) 1
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy 1

 

Last Updated: 29 May 2015

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

Status: Recruiting

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

 

Last Updated: 23 Jun 2015

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Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
 

Status: Recruiting

Condition Summary: Type 2 Spinal Muscular Atrophy; Type 3 Spinal Muscular Atrophy

 

Last Updated: 30 Jun 2015

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