Spinal Muscular Atrophy (SMA) is a genetically inherited, progressive, rare, and fatal muscle disease. The incidence of the disease is 1/10,000 worldwide and 1/6,000 in our country. There are approximately 1000 individuals with SMA in Turkey.
SMA disease occurs in 4 different types.
Patients with SMA type 1, the most severe type of the disease, lack basic skills such as walking, sitting, arm and leg movements, head control, speaking, eating, and breathing. They meet their respiratory and nutritional needs with the help of medical devices. SMA patients need lifelong physical therapy, medication, and medical devices. They hear.
A person with SMA has monthly expenses of between 3,000-4,000 TL.
With carrier screening tests performed on parents before marriage or pregnancy, it can be determined whether the parents are carriers, and carrier couples can have healthy babies with PGT. Thus, SMA disease can be prevented before it occurs.