Spinal muscular atrophy (SMA)
a hereditary disease in which degenerative changes occur in the cells of the spinal cord that controls motor function of skeletal muscles. The diseased nerve cells of the spinal cord gradually die, leading to the development of muscle weakness and atrophy.
AGR klassificeret three types
- Type I infant, is evident from the first months of life
- Type II intermediate, occurs in the first half year of life
- Type III is chronic, starting at the age of 10-20 years.
The disease is caused by a mutation of a gene in chromosome 5. Gene is responsible for protein synthesis and survival of neurons of the spinal cord. With a deficiency or defect of this protein, nerve cells die.
The mechanism of inheritance of the disease occurs in an autosomal recessive basis. If a defective gene present in the chromosome set of both parents, risk of child, a patient of SMA. A recessive gene that can cause disease present in one of the 40 people. According to statistics, on average, 6,000 children are born one baby with such a diagnosis, but the incidence varies from country to country.
Symptoms of all three types of the disease have some differences, but common to all three are
- weakness and very low motor activity
- involuntary twitching (tremor) of the fingers, tongue
- flattened chest
- symmetric atrophy of the muscles of the trunk and extremities (especially lower)
- impairment of function of pelvic organs
- a positive result in the study of DNA for the recessive gene.
Today medicine does not have effective methods of treatment of spinal muscular activity.
Of non-pharmacological methods used massage and electrophoresis neostigmine, physiotherapy.
As a medicinal therapy, the patient is prescribed
- nivalin and neostigmine, which promotes neuromuscular impulses
- Actovegin, improves metabolism and blood circulation, peripheral vascular
- piracetam and nootropil to improve blood supply of the Central nervous system.
Specialists are involved in active research with the aim of identifying ways to compensate for destruction of spinal neurons, and to increase protein concentration to ensure the preservation of nerve cells.