Adult spinal muscular atrophy

Common Name(s)

Adult spinal muscular atrophy, Adult proximal spinal muscular atrophy autosomal dominant

Adult spinal muscular atrophy (SMA) is one type of a group of genetic conditions, called spinal muscular atrophies, that affect specific cells in the spinal cord (motor neurons) and cause muscle weakness and loss of muscle tissue (atrophy). Symptoms of the adult form of SMA include weakness in the muscles that are closest to the chest (proximal), muscle cramping in the arms, legs and abdomen, and uncontrollable muscle movements. The disease can also affect swallowing, bowel movements or bladder function. Adult SMA begins in early to mid-adulthood. The symptoms of this form of SMA typically are not as severe, and become worse (progress) more slowly, than the other forms of SMA.

Adult SMA is caused by a change (mutation) in the VAPB gene. This gene provides instructions for the body to make a protein that helps keep abnormally folded proteins out of motor neurons, which are cells that send signals from the brain to the muscles. If the VAPB gene has a mutation, abnormally folded proteins build up and create clumps in the motor neurons, stopping them from sending signals and causing the symptoms of adult SMA. This condition is inherited in an autosomal dominant manner, which means a mutation in only one of the two gene copies a person has is enough to cause the condition.

A diagnosis of adult SMA is considered in an adult who starts to have muscle weakness and atrophy. The diagnosis is confirmed with genetic testing. Current treatment options depend on the symptoms and can include breathing and feeding support, therapies, and devices to help with movement (such as braces or a wheelchair). If you have been diagnosed with adult SMA, talk with your doctor about current treatment options. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for adult SMA. Support groups can provide additional information and connect you with others affected by this condition.

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Condition Specific Organizations

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

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General Support Organizations

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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 "Adult spinal muscular atrophy" returned 3 free, full-text research articles on human participants. First 3 results:

Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
 

Author(s): Victor Kosac, Marcos R G de Freitas, Frederico M Prado, Osvaldo J M Nascimento, Caroline Bittar

Journal: Arq Neuropsiquiatr. 2013 Oct;71(10):788-90.

 

Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and ...

Last Updated: 11 Nov 2013

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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
 

Author(s): Francesco D Tiziano, Rosa Lomastro, Lorena Di Pietro, Maria Barbara Pasanisi, Stefania Fiori, Carla Angelozzi, Emanuela Abiusi, Corrado Angelini, Gianni SorarĂ¹, Alessandra Gaiani, Tiziana Mongini, Liliana Vercelli, Gessica Vasco, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Luisa Politano, Luigia Passamano, Grazia Di Gregorio, Cristina Montomoli, Chiara Orsi, Angela Campanella, Renato Mantegazza, Lucia Morandi

Journal: Eur. J. Hum. Genet.. 2013 Jun;21(6):630-6.

 

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are recognized (types I-III). All patients usually have 2-4 copies of a highly homologous gene (SMN2), which produces ...

Last Updated: 16 May 2013

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Adult onset spinal muscular atrophy with atrophic testes: report of two cases.
 

Author(s): J R Richert, J P Antel, J J Canary, W C Maxted, D Groothuis

Journal: J. Neurol. Neurosurg. Psychiatr.. 1986 May;49(5):606-8.

 

Last Updated: 8 Jul 1986

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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 "Adult spinal muscular atrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial of a Serious Game for Individuals With SCI/D
 

Status: Recruiting

Condition Summary: Spinal Cord Injury; Spinal Cord Involvement; Spina Bifida; Transverse Myelitis; Polio and Post-polio Syndrome; Syringomyelia; Spinal Stenosis; Spinal Neoplasms; Spinal Cord Diseases

 

Last Updated: 16 Jan 2015

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