Spinal muscular atrophy (SMA) is a genetic neurogenerative disease which affects approximately one in every 6,000 to 10,000 children. It is caused by mutations in the copy of the SMN1 (survival motor neuron 1) gene and leads to muscle deterioration, the severity of which varies depending on the type of SMA the…
Cure SMA is a non-profit organization committed to helping patients and the family of people with spinal muscular atrophy (SMA). When a patient is diagnosed with SMA, it can be an extremely difficult time for their family. They’re often confused, uncertain about the future and have no idea where to turn…
Aviana McElwee from Darwin, Australia, was just a few months old when her doctor realized she was having problems reaching milestones. Tests later confirmed that she had spinal muscular atrophy (SMA). According to a report from abc.net.au, Aviana is the ninth baby in the world to receive the drug nusinersen (Spinraza) for…
The non-profit organization, Cure SMA, is launching an international patient survey so that it can address some of the issues surrounding spinal muscular atrophy (SMA) treatment. Find out about seven care areas for supporting patients with SMA. Cure SMA is inviting patients and caregivers to complete a survey…
According to the Daily Mail, Lexi Pacini from Colorado has made incredible progress while using Spinraza. Lexi’s parents felt something was amiss with their little girl when she failed to meet the same development milestones her older sister had. At 11 months old, Lexi still hadn’t learned to crawl so they took her to…
A recent study group has interviewed mothers with SMA to establish if they had any problems with pregnancy and the birth of their children. Newborns in North Carolina to receive free genetic testing. There is limited information available to SMA patients who wish to start families, so the findings…
In this Fight SMA video, Dr. Nanci Yuan talks about the role of cough-assist machines in the treatment of children with spinal muscular atrophy (SMA). She explains that the cough-assist machine is used primarily for two functions: to clear mucus and for chest expansion. Find the answers to five of the…
Patients with spinal muscular atrophy (SMA) will need support care in various different areas, from healthcare to daily life. To help you prepare, we’ve put together a list of some of the different support care areas you can expect to come into contact with if you or a loved one has…
This video from Nemours Children’s Hospital shows the effects of the drug nusinersen (Spinraza) on a young spinal muscular atrophy (SMA) patient. Find out more about nusinersen (Spinraza) in the webinar. Three-year-old Asher Camp from Florida was diagnosed with type 1 SMA when he was six months old,…
Finkle type spinal muscular atrophy is a form of SMA that develops in adulthood as opposed to childhood. Dr. Richard Finkle was the first physician to describe the condition in 1962 and the disease took his name. Find out more about some of the issues adults with SMA face.
