Spinal muscular atrophy (SMA) is a genetic disorder that affects the nerves controlling muscle movement, leading to muscle weakness and loss over time. It is caused by changes in a gene called SMN1 and can vary in severity.
SMA is classified into types I–IV, based on the age of onset. Some cases of SMA appear in infancy and others later in life. Although SMA is considered a rare disease with a worldwide prevalence estimated at 1 in 10,000 live births, the impact on those affected and their families is profound. Raising awareness during SMA Awareness Month, observed annually in August, is crucial as it promotes early diagnosis, improves treatment options and supports ongoing research efforts to find a cure.
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According to GlobalData’s forecast, in the seven major markets (7MM: France, Germany, Italy, Japan, Spain, the UK and the US) combined, the most prevalent type of SMA was type II, responsible for approximately 41% of cases. Type II is an intermediate form of the condition. Children with this type of SMA may sit without support at some point, but cannot walk on their own. Depending on symptoms, patients may have a normal life span. Advances in treatment have improved the prognosis for children with type II SMA, and awareness of and education about the condition are essential to support affected families. Other forms of SMA present their own particular challenges due to the variable severity and impact on motor function.
In the combined 7MM, the diagnosed prevalent cases of all types of SMA are expected to grow from approximately 18,700 cases in 2024 to 19,200 by 2033 at an annual growth rate of 0.31%. Raising awareness about SMA encourages early screening and diagnosis, which is vital because early intervention treatments such as gene therapy can lead to significant improvements in outcomes. Additionally, education and resources can support families to make informed decisions. Education and disease awareness also reduce any stigma associated with SMA, promoting inclusion where sufferers are better supported in their daily lives.
Although SMA is a rare disease, SMA Awareness Month is important because it contributes to better outcomes for affected individuals. Awareness months help with early diagnosis and treatment, and empower families and medical professionals to make informed decisions on patient care. These initiatives also drive fundraising efforts that advance research in new treatments and cures. Continued focus on SMA through education, advocacy and research can enhance quality of life for those with the disease, improve its management, or even discover a cure.
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