Childhood Spinal Muscular Atrophy (SMA) – Treatment and Prevention

• Spinal muscular atrophy is the second most common form of genetic disease affecting children after thalassemia. It occurs due to motor neuron deterioration, leading to a lack of signals being sent from the spinal cord to the muscular system. 
• Infants from newborns up to 6 months old with this disease usually have a life expectancy of no more than 2 years. 
• Genetic screening and preconception spinal muscular atrophy carrier gene screening are both ways in which the condition can be prevented. 

Spinal muscular atrophy is a condition that is caused by the deterioration of motor neurons, resulting in a lack of signals reaching the muscular system from the spinal cord. The condition is the second most common genetic disease after thalassemia. 

This condition can affect any age group, from newborn infants to adults, but when the symptoms present themselves during infancy, they tend to be more severe. The condition can be categorized into 4 main forms as follows: 

• SMA Type I: This is the most severe form of the disease, with symptoms first displaying themselves from birth until 6 months of age. Infants suffering from this condition will be unable to sit, while the life expectancy for this group of patients is no more than 2 years due to their weakened respiratory function, which leads to breathing difficulties. 
• SMA Type II: A moderately severe form of the condition, the symptoms of which present themselves at around 7-8 months of age. Infants with this disease will be unable to stand and will also have a life expectancy of no more than 2 years. 
• SMA Type III: A much less severe form of the condition for which the symptoms only become apparent after 18 months of age. 
• SMA Type IV: This form usually only presents itself after the age of 18 years. In the long run, patients with this condition may require a wheelchair once they reach the age of around 50-60 years. 

Spinal muscular atrophy treatment 

Patients suffering from spinal muscular atrophy must receive specialized treatment, including for their respiratory system, central nervous system and muscular skeletal system. Additionally, they should undergo physical therapy and receive the appropriate nutritional advice from medical professionals. Infants with SMA can attend consultations with expert doctors in order to receive treatment using specially designed equipment aimed at rehabilitating muscular systems that have been damaged by abnormalities affecting the brain, spinal cord and skeletomuscular system. 

Due to this condition being genetically transferable via recessive genes, spinal muscular atrophy can be prevented by genetic screening techniques, including preconception SMA carrier gene screening. In cases where both the mother and father are carriers of the gene, their child will have a 1 in 4 chance of being born with the condition. 

Screening for SMA genes is a simple, uncomplicated procedure that can be carried out with a blood test that offers results within a one-month timeframe. Such screening can clarify whether the mother or father is carrying the gene, meaning they can be confident when making plans to start a family in the future. 

The Pediatric Neurology Clinic offers diagnosis and treatment of neurological disorders in the brain, spinal cord, nerves and muscles, such as chronic headache, cerebral palsy, epilepsy, meningitis, encephalitis, cerebral hemorrhage, brain tumors, muscle weakness and movement disorders from various causes. Our team of specialists uses Electroencephalography (EEG), CT scans and MRI scans to determine the causes of the abnormalities.  These tools help doctors and patients each step of the way, so that their treatment plan ensures the best results.