Prof. Dr. Ali EKİZ

Prof. Dr. Ali EKİZ

Gynecology and Perinatology (Risky Pregnancy) Specialist

With over 15 years of professional experience, dozens of national and international research articles, and most importantly, his smiling face, Gynecology and Perinatology Specialist Prof. Dr. Ali EKİZ is with you.

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SMA Spinal Mucous Atrophy Disease

What is SMA Spinal Mucular Atrophy?

Spinal Muscular Atrophy (SMA) is a progressive, autosomal recessive neuromuscular disease that concerns motor nerve cells in the spinal cord and causes these nerve cells to lose their function over time.

How often does SMA occur?

It occurs in 1 in 5000 to 10,000 births in Europe. However, the carrier frequency is 1 in 50.

Are there different types of SMA disease?

Several types of SMA have been described and vary in severity, but SMA type I (SMA-I) accounts for approximately 50-60% of SMA cases and is the most severe and usually causes death before 2 years of age. It is also known as SMA I (Werdnig-Hoffman Disease), SMA II (Dubowitz Disease), SMA III (Kugelberg-Welander Disease). More than 80% of spinal muscular atrophy patients have SMA I and SMA II types, both of which are fatal. A milder type, SMA III, presents after 18 months, although the symptom profile is highly variable. SMA IV begins in adulthood. In addition to these, SMA 0 type, which starts in the prenatal period, has also been suggested.

Why does SMA disease occur?

SMA disease is an autosomal recessive inherited genetic disease. Usually, the disease can occur if both parents are carriers. The parents of 98% of babies with the disease are carriers for the gene that causes the disease, and 2% are not carriers. The SMA gene is located specifically in the region of the long arm of the 5th chromosome. All individuals have two genes encoding the SMN protein, SMN1 and SMN2.

How is a Carrier Scan done?

As of the end of 2021, the Ministry of Health has been screening all newly married couples for surrogacy. Carrier screening is done by screening one of the two parents. If one parent is not a carrier, it is not necessary to examine the other. If the carrier screening was done during pregnancy and both parents are carriers, it is necessary to examine the unborn baby as well. The fetus is examined by amniocentesis and it can be determined definitively whether it is sick or not.

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Other Perinatology Topics

Contact us to get information about Perinatology (High-Risk Pregnancy)
Contact us to get information about Detailed Ultrasound
Contact us to get information aboutFetal Echocardiography
Contact us to get information about Genetic Screening Tests
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