Spinal Muscular Atrophy (Sma)

Spinal Muscular Atrophy (SMA): a hereditary disease caused by the death of motor neurons in the spinal cord, accompanied by progressive atrophy of the muscles of the upper and lower extremities. This is a serious disease that occurs as a result of a mutation in the gene responsible for the development of this condition. In children with SMA, the gene is inherited as a double recessive, meaning both parents must be carriers of the abnormal gene for the child to develop the disease.

Spinal muscular atrophy usually begins to appear between the ages of 2 and 12 years. It is characterized by progressive muscle weakness and atrophy, leading to limited movement and functional impairment. As the disease progresses, the respiratory muscles are affected, putting patients' lives at risk due to respiratory tract infections.

Most people with SMA become permanently disabled before the age of 20, and few reach age 30. There are several types of SMA, including an acute form of the disease known as Infantile Spinal Muscular Atrophy, also called Werdnig-Hoffmann disease.

Spinal muscular atrophy is a progressive disease and there is no cure, but there are approaches to manage symptoms and support patients. Physical therapy, occupational therapy, and other rehabilitation modalities can help maintain muscle function and improve quality of life. In addition, new therapeutic approaches, including genetic therapy, have recently been developed that show potential for slowing disease progression and improving long-term prognosis for patients with SMA.

In conclusion, spinal muscular atrophy (SMA) is an inherited disorder that results in progressive muscle atrophy and limited movement. The disease is characterized by the death of motor neurons in the spinal cord and can lead to serious complications, including breathing problems. Although there is no complete cure yet, there are approaches to symptom management and new therapeutic options that offer hope for improving the prognosis for patients with SMA.

Spinal cord atrophy is a genetic hereditary disease.

The classic manifestation of SMA is axonal degeneration of neurons in the anterior horns of the spinal cord, as well as the spread of inflammation to motor neurons of the somatic nerves and disruption of synaptic connections at the neuromuscular junction.

SMA is an acute genetically determined multisystem hereditary demyelinating neurodegenerative disease of the nervous system. The disease is characterized by complete and irreversible impairment of motor function; degeneration of the anterior and posterior horns of all parts of the spinal cord; develops as a result of mutations in the SMN1 gene, leading to a decrease in the level of SMN mRNA and SMN precursor protein, which prevents the normal assembly of the protein complex. Caused by decreased function or death of the nerve