Two Medical Breakthroughs for Spinal Muscular Atrophy Treatment

With the continuous improvement of newborn screening, new treatments are discovered to prevent the appearance of symptoms. Recent reports from medical journals indicate that success in the studies seem to be moving fast, although regulation may take long. Gene therapy has shown positive results in the treatment of adrenoleukodystrophy (ALD), a form of immunodeficiency that is severe and combined with inborn visual loss. For protein-refolding drugs, they are being studied more to treat mutations that lead to cystic fibrosis. 

Sickle cell disease depicts various methods being utilized. This illness can be treated with a stem cell transplant or hydroxyurea, which is a drug that can reactivate fetal hemoglobin. Clinical trials have shown options that include voxelotor, a pill taken once a day that prevents glomming of sickled cells, where gene therapy can repair mutation of stem cells from affected patients.

Spinal Muscular Atrophy or SMA is a disease that causes muscles and nerves not to function. The motor neurons in the spinal cord are damaged that causes extreme weakness and flaccidness. In the long run, it eventually impairs breathing of the patient. In addition, it is inherited from parents who may have the disease or have a faulty mutation of genes that can potentially give rise to the disease if passed to their offspring. This is also the main cause of genetic disease death among infants. It affects 1 in 10,000 babies who are newborn, and 1 in every 50 people carry the genes.

There are several different types of SMA, and they all vary in severity and where exactly they affect the infant. Each type can even occur within various ages. Type I, also known as Werdnig-Hoffman disease, is severe and is present in the beginning months of a child. Typically, the affected child develops slowly and has difficulty with supporting their head and sitting up without assistance. Those with type I also have issues with breathing and swallowing.

Type II is a form that leads to muscle weakness, and it usually is present when the child is between 6 and 12 months. Unlike type I, children can sit without support, but have difficulty with standing and walking. Type III is more mild compared to the others. It's more present between childhood and adolescence and it affects a child's ability with walking and climbing up stairs. The symptoms progressively get worse, and often the patient would need to have a wheelchair as they age.

Type IV is also a little different from the others as its symptoms do not often show until after the age of 10. Patients experience muscle weakness, tremors, and breathing issues. The symptoms usually are involved with the proximal muscles, which are located in the upper arms and legs.

Infants who have SMA do not live for more than 2 years in most cases. In some patients who live longer than that, they are attached to a respirator and fed with a feeding tube. There are also cases where the baby only lives for a couple of days.

Possible treatments for SMA is the newest medical breakthrough in the treatment of diseases that are single-gene. The two different approaches that are DNA-related seem to effectively work. These are antisense oligonucleotides and gene therapy. The studies can be seen in England Journal of Medicine, which could be found on Medscape Medical News.