According to the Daily Sabah, the Health Ministry of Turkey is taking a new approach to family planning and screening for genetic disorders. As of October 8, 2021, the Health Ministry has acquired over 800,000 screening tests for spinal muscular atrophy (SMA). These tests, which are offered for free in areas of the country such as Ankara, will be given to newlywed couples. These tests will not only offer insight into whether newlyweds might have a child with SMA but also provides insight into how to manage this rare genetic disorder.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder which causes muscle weakness and degeneration. SMN1 gene mutations cause SMA. These mutations cause motor neuron death, causing muscle atrophy. Depending on the patient, these effects may be mild or severe. Patients may have difficulty crawling, walking, breathing, swallowing, sitting, or moving the head without assistance.
There are multiple forms of SMA. For example, type I, also known as Werdnig-Hoffman disease, is often severe and diagnosed at – or following – birth. In addition to developmental delays, patients experience difficulty breathing, swallowing, sitting up, or independently supporting the head. In type II, symptoms appear between ages 6-12 months. Patients with this form cannot stand or walk independently. Next, in type III, or Kugelberg-Welander syndrome, symptoms appear between early childhood and adolescence; type IV appears in adulthood, and is characterized by mild muscle weakness and tremors.
In May 2021, the Health Ministry of Turkey began offering free SMA tests in Ankara. Due to the program’s success, Turkey is now offering these tests on a more widespread basis. Each year, an estimated 170 Turkish infants are born with SMA.
Offering these screening tests is one way that the Health Ministry is working to support patients and families with SMA. Zolgensma, an experimental therapy approved in the U.S. and E.U., is not available in Turkey. However, this has not stopped families from pursuing treatment outside of Turkey. Unfortunately, this is often expensive and inaccessible, placing an increased burden on families.
The Health Ministry has stated that it will pay for any therapies which have been proven to show benefit for patients.