Counseling and Genetic Diagnosis of Spinal Muscular Atrophy

This disease is known as one of the most common genetic diseases with autosomal recessive inheritance and also the most common monogenic cause of early infant death. In this disease, the motor neurons of the anterior horn of the spinal cord and the base of the brain (Pons) are depleted and the affected person has difficulty in performing some voluntary movements. The probability of an individual being a carrier for SMA has been reported to be 1 in 25 to 50 in various populations. Studies conducted in our country have reported the number of carriers to be around 1 in 20 people, which is more common than other populations and shows the necessity of screening people in order to identify the carriers of this disease.