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: 27 Jun 2016

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Spinal Muscular Atrophy Support UK (SMA Support UK)

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: 28 Jun 2016

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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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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

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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.

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: 27 Jun 2016

View Details
Logo
Spinal Muscular Atrophy Support UK (SMA Support UK)

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.smasupportuk.org.uk/

Last Updated: 28 Jun 2016

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

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

X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon.
 

Author(s): Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara

Journal:

 

The X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition ...

Last Updated: 31 Dec 1969

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Therapy for Spinal Muscular Atrophy.
 

Author(s): Richard S Finkel, Wildon Farwell

Journal: N. Engl. J. Med.. 2018 02;378(5):487-488.

 

Last Updated: 31 Dec 1969

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Denosumab Treatment of Severe Disuse Osteoporosis in a Boy With Spinal Muscular Atrophy.
 

Author(s): Stepan Kutilek

Journal: Acta Med Iran. 2017 Oct;55(10):658-660.

 

Denosumab is a fully human recombinant monoclonal antibody to the receptor activator of nuclear factor-κB ligand. Denosumab is used in the treatment of postmenopausal osteoporosis and cancer-related bone disorders. There are only very scarce data on denosumab treatment in children. ...

Last Updated: 31 Dec 1969

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

Therapeutic strategies for spinal muscular atrophy: SMN and beyond.
 

Author(s): Melissa Bowerman, Catherina G Becker, Rafael J Yáñez-Muñoz, Ke Ning, Matthew J A Wood, Thomas H Gillingwater, Kevin Talbot,

Journal: Dis Model Mech. 2017 08;10(8):943-954.

 

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding ...

Last Updated: 31 Dec 1969

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Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
 

Author(s): Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller

Journal:

 

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately ...

Last Updated: 31 Dec 1969

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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.
 

Author(s): Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

Journal: Neural Plast.. 2017 ;2017():6509493.

 

Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neonatal Spinal Muscular Atrophy (SMA) Screening
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 8 Nov 2017

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An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA)
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 25 Jun 2018

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