Spinal Muscle Atrophy (SMA) in a 5 Years Old Girl from Macedonia: Case Report

Abstract

Spinal muscular atrophies are inherited diseases in which nerve cells in the spinal cord and brainstem regress, causing progressive muscle weakness and wasting. There are five main types of spinal muscular atrophy, which are classified according to the severity of muscle weakness and wasting. Depending on the type, one may be confined to a wheelchair, and life expectancy may also be limited. Based on symptoms, the diagnosis can be proven through family history, muscle and nerve function studies, and blood tests to determine the location of the defective gene. Spinal muscular atrophies are usually inherited in an autosomal recessive manner. Thus, for a person to inherit the disease, two genes are necessary, one from each parent. The group of SMA disease in childhood can affect the brain and spinal cord as well as the peripheral nerves. We present a case of a 5 years old girl with spinal muscle atrophy and analyze the different new therapeutical options and future research in the field of spinal muscular atrophy in childhood.