Spinal muscular atrophy (SMA) - is a severe genetic neuromuscular disease caused by a defect in the SMN 1 gene.
The gene is responsible for the synthesis of the SMN protein, which ensures the survival of motoneurons - motor neurons of the spinal cord. In patients with SMA protein is produced less than the required amount, and motoneurons are destroyed without it. As a result, the muscles do not receive the right signals from the brain, they atrophy and gradually weaken, and then paralysis occurs.
It is classified 5 types of SMA depending on the age of disease onset. The earlier the disease starts, the more severe its course and prognosis.
Early manifestations that indicate possible motoneuron damage in a child:
- Torpidity of the child from the first days of life;
- Suction disorders;
- Shallow respiration;
- Frequent respiratory diseases.
In the future, parents note a delay in motor development (the child does not turn around, does not start crawling and sitting or walking), the degree of which depends on the form of spinal atrophy.
Secondary symptoms that develop in children with spinal muscular atrophy:
- kyphoscoliosis - develops against the background of weakness of the paravertebral muscles;
- contractures of knee, ankle, elbow and other joints - occur against the background of lack of active movement due to muscle weakness;
- Respiratory disorders, which occur against the background of weakness of the intercostal muscles and diaphragm and are manifested by respiratory disorders more often during sleep, and in severe cases, during vigor.
The later the disease debuted, the less frequent respiratory disorders and the better the prognosis. Children who develop symptoms of SMA from the first month of life (SMA type I) need hardware respiratory support (non-invasive lung ventilation).
Children with SMA type II and III often do not need respiratory support.
The diagnosis is established on the basis of molecular genetic examination by determining deletions in exons 7 and 8 of the SMN 1 gene and the SMN 2 gene copies.
Patients with SMA need support of a wide range of specialists: pediatricians, neurologists, pulmonologists, orthopedists, physiotherapists, rehabilitation specialists, speech therapists and even palliative services.
To date, there is a pathogenetic treatment of SMA. Spinraza and Eurisdi drugs slow down the death of motoneurons, the drug Zolgensma gene therapy with timely administration to patients with SMA type I ensures the normal functioning of motoneurons.
The greatest effectiveness of these drugs was recorded with the fastest introduction from the beginning of the disease. That is why early diagnosis and timely treatment are very important.
At our medical center treatment is aimed at slowing the progression of secondary symptoms of SMA, such as kyphoscoliosis, joint contracture.
After consultation the pediatric neurologist will determine the scope and types of rehabilitation.
The pediatrician may offer the following types of care:
- Metameric injections;
- Massages;
- Orthoses;
- Logopedic massages;
You can make an appointment for a consultation and treatment by calling the contact center (044) 238-22-31.
