Scapuloperoneal spinal muscular atrophy

Common Name(s)

Scapuloperoneal spinal muscular atrophy, Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Scapuloperoneal spinal muscular atrophy (SPSMA) is a very rare genetic disorder that causes muscle weakness and a decrease of muscle tissue (atrophy) that gets worse with time (progressive). In SPSMA, the weakness and atrophy tend to occur in the muscles of the shoulders (scapula) and lower legs (peroneal), but muscles of the face and voice box (larynx) may also be affected. The symptoms of SPSMA generally begin early in life, either in infancy or early childhood.

SPSMA is caused by a mutation in the TRPV4 gene. This gene provides instructions for the body to make a protein that allows calcium into or out of cells in the body and is important in motor neurons (cells that carry signals from the brain to the muscles of the body). When the TRPV4 gene has a change (mutation), it affects how the brain communicates with the muscles through the motor neurons, leading to weakness and atrophy in the muscles.

SPSMA seems to be inherited in an autosomal dominant manner, meaning that a mutation in one of the two copies a person has is enough to cause the disorder. However, not everyone who has a mutation in the TRPV4 gene will have symptoms (incomplete penetrance). A diagnosis of SPSMA is considered in children with muscle weakness in the shoulders and lower legs. Genetic testing is used to confirm the diagnosis. If your child has been diagnosed with this disease, talk with your doctor about the current treatment options. Support groups are a good resource for additional information and to connect with other families affected by this condition.

Source: Advocacy organizations associated with the condition.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Scapuloperoneal spinal muscular atrophy" returned 1 free, full-text research articles on human participants. First 3 results:

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
 

Author(s): Han-Xiang Deng, Christopher J Klein, Jianhua Yan, Yong Shi, Yanhong Wu, Faisal Fecto, Hau-Jie Yau, Yi Yang, Hong Zhai, Nailah Siddique, E Tessa Hedley-Whyte, Robert Delong, Marco Martina, Peter J Dyck, Teepu Siddique

Journal: Nat. Genet.. 2010 Feb;42(2):165-9.

 

Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We ...

Last Updated: 27 Jan 2010

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Reviews from the PubMed Database

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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