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Joseph Samaha, Jim Dagher, Shayan Abdollah Zadegan

Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of CAG repeats results in the production of a mutant huntingtin protein with an abnormally long polyglutamine […]

Cure SMA

Cure SMA
Web Address: Cure SMA Website

About Cure SMA:
Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA). Since 1984, Cure SMA has grown to be the largest U.S.-based network of individuals, families, clinicians, and research scientists working together to advance SMA research, support individuals and families impacted by SMA, and educate public and professional communities about SMA. Cure SMA funds and directs comprehensive research that drives breakthroughs in treatment, advances access to high-quality care, provides practical support programs, and advocates for the needs of the SMA community. Learn more at www.curesma.org

About SMA:
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. Each year, thousands of infants in the U.S. and around the world are born with SMA. SMA also impacts children, teens, and adults from every background, race, and gender. Approximately one in 50 people, more than six million total, is a genetic carrier for SMA. There are several approved treatments for SMA, but we do not yet have a cure.

Mission & Vision:
Cure SMA leads the way to a world where everyone impacted by spinal muscular atrophy (SMA) is empowered to lead independent, successful, and fulfilling lives. We strive to create a community where every individual is heard and feels welcomed. Cure SMA provides practical support programs for our community and advocates for their needs. We fund and direct comprehensive research that drives breakthroughs in treatment, and we advance access to high quality care. We will not stop until we have a cure.

Current SMA Landscape:

There are now three approved powerful treatments for SMA and over 70% of individuals impacted in the U.S. have access to and are getting benefit from at least one of these therapies. We are also now at 99% of all births in the U.S. being screened for SMA, which then leads to treatment within a month of birth before symptoms and damage to nerve cells can occur. But we have more work to do to reach a cure for everyone, where we can bring back lost function.

SMA Statistics:

  • SMA affects approximately one in 11,000 births in the U.S.
  • Approximately one in 50 people is a genetic carrier for SMA. Many times, carriers do not know they are carriers until they have a child born with SMA.
  • When two carriers have a child, there is a 25% chance that the child will be unaffected, a 50% chance that the child will also be a carrier, and a 25% chance that the child will have SMA. This risk is the same for each pregnancy
  • For additional statistics and information on the disease see the State of SMA Report document

Further Resources

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