Spinal muscular atrophy (SMA) is a rare neuromuscular system disease that mainly affects spinal neurons (motor neurons in the spine) and leads to muscle atrophy and weakness. As a genetic illness, early understanding of the patterns of genetic conditions is critical for early prevention and treatment.

The root cause of SMA is a defect or mutation of the SMN1 gene, which leads to an essential protein deficiency in spinal neurons. SMA is a autosomal recessive genetic disease; patients usually inherit the abnormal SMN1 gene from each of their parents, each with a defective gene. The children of such parents may become asymptomatic gene carriers if they inherit the gene from only one of their parents.

The severity of the disease depends on the age of onset and symptoms, which are classified into different types, symptoms that occur in newborns (Type I), symptoms that occur by childhood (Type II) and those that occur in teenage years or as adults (Type III).

Major signs and symptoms of SMA include progressive muscle atrphy and weakness caused by pathological spinal neurons, which impacts basic motor function such as sitting, standing and walking, as well as breathing and swallowing. End-stage patients are at risk of death if they exprience severe dyspnea and malnutrition issues.

Some new medicines have been developed recently, for example Spinraza and Evrysdi, which have brought some SMA patients new hope. As of 2023, the National Health Insurance Administration has expanded the reimbursement criteria for SMA related medicines to elevating the treatment quality of patients and approved the inclusion of the genetic treatment "Zolgensma" at a reimbursement price of NT$ 4.9 million per dose, which is the highest reimbursement price in the history of the national insurance scheme in Taiwan. However, not only newly developed medicine can treat the disease with good efficacy; in combination with traditional physical treatment, respiratory treatment, and other supportive treatment, the quality of life of patients can also be improved.

SMA genetic screening plays a crucial role in preventing and early treatment of diseases. The Tri-Service General Hospital Center for Precision Medicine and Genomics promotes and provides SMN1 genetic screening and is dedicated to improving the quality of life of patients and providing more alternatives for them. The Center is focusing on providing genetic screening services and is also strongly involved in related disease education to raise the social awareness and understanding of SMA.

The Center's professional team, including geneticists, genetic counselors, and professional medical staff of related fields provide the high-quality genetic screening services. Through SMA genetic screening, we can discover genetic risks at an early stage, providing even more universal, complete information and adequate support, benefiting more patients with early genetic diagnosis and treatment. This is our mission and commitment to patients and their families.