General Information About SMA
Disease Details and Frequently Asked Questions
It is the progressive death of motor nerve cells (neurons) that transmit movement commands from the brain and spinal cord to the muscles because they cannot produce an essential protein, leading to the complete wasting and weakening of the muscles over time.
It is an autosomal recessive genetic disease. For a sick baby to be born, both the completely healthy-looking mother and father must be SMA carriers, and both of their defective genes must be passed to the child at the same time.
Type 1: It is the most severe form, starting in infancy; the baby cannot hold its head, cannot roll over, cannot swallow, and is connected to a respiratory device.
Type 2: Starts at 6-18 months; the baby can sit but can never walk.
Type 3: The child learns to walk but over time, their muscles weaken, and they transition to a wheelchair.
No. SMA is a disease that only affects muscle (motor) cells. The cognitive abilities, intelligence, and emotional development of babies/children are completely healthy and normal.
When hypotonia (floppy baby) syndrome is noticed in the family, CK (muscle enzyme) is measured in the blood and EMG is performed. A definitive diagnosis is made 100% only by Genetic Testing (SMN1 gene mutation analysis) from the blood.
Today, there are 3 different revolutionary drugs for SMA, which used to be untreatable and fatal. Spinraza (a drug administered into the spinal fluid from the waist) and Zolgensma (a single-dose gene replacement therapy administered intravenously) stop motor cell deaths and prevent muscle loss by ensuring SMN protein production.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
