La ricerca contro la SMA
Welcome

This site is dedicated entirely to scientific research on Spinal Muscular Atrophy, also known as SMA (acronym for Spinal Muscular Atrophy), a serious genetic disease against which so far there is no treatment.
But the world studies and, as the research progresses, there is increasing recognition that we are now close to a cure. The countdown has begun and soon will be the day when the dream will become reality!

 
Understanding the disease

Spinal muscular atrophy (SMA) is an inherited neuromuscular disease, caused by deletion and/or mutation in the SMN1 gene (survival motor neuron). This gene is responsible for the production of a protein which is essential to the proper working of the motor neurons. People who are missing both copies of SMN1 have SMA, while carriers are missing only one copy.

 
Research overview

The purpose of scientific research on spinal muscular atrophy is the discovery of effective treatment. This is an extraordinary challenge because the disease is caused by the lack of an essential protein, encoded by the gene SMN1. Most drugs used in treatment of diseases block the function of proteins, only few increase or replace it.

 
Partner

This site is supported with the help of ASAMSI - Associazione per lo Studio delle Atrofie Muscolari Spinali Infantili, Famiglie SMA and UILDM - Unione Italiana Lotta alla Distrofia Muscolare under a common project for a simple and correct scientific information.

Become a partner: contact the site manager.

 
Certification

This site complies with the HONcode standard for trustworthy health information.

HONcode is the oldest, used ethical and trustworthy code for medical and related health information available on the Internet.
HONcode is designed for three target groups: the general public, health professionals and web editor, actively involving the site owner in the certification process.
 
Statistics

- SMA is the #1 genetic killer of young children;
- SMA is estimated to occur in nearly 1 out of every 6,000 births;
- 1 in every 35 people, or nearly 10 million Americans, unknowingly carries the gene deletion responsible for SMA; few have any known family history;
- SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender;

 
Disclaimer


This site is aimed at everyone involved in the fight against spinal muscular atrophy, whether patients and their families, physicians, health professionals or students of the area. The information in this site serves to enhance, not replace, the doctor-patient relationship.
Privacy Policy: the personal information collected from the visitors of this website, including their identity, remains confidential. We respect the laws on confidentiality applicable to this website and we will never pass on these data to any third party, unless required by law. Our website does not collect any cookies.
Funding sources and conflicts of interest: this site is funded solely by Patient Organizations listed above and called "Partner". These sources of funding have not any influence on the editorial content of the site and do not produce conflicts of interest.

Note on site manager
Note on sources

LAST UPDATE: January 5, 2013

No advertising on this site!

CAUTION Medical contents on the site are purely for guidance and information and cannot replace in any case the medical advice. All contents provided by the site are written exclusively by professionals in the medical-scientific area, unless an explicit statement does not specify otherwise.
All data is handled with respect for privacy.

This site is dedicated to the memory of Federico Milcovich and all the people who died prematurely due to spinal muscular atrophy and other neuromuscular diseases.
Guides to SMA research





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the HONcode standard
for trustworthy health

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