The SMA Clinic
Spinal muscular atrophy (SMA) or proximal spinal amyotrophy is a hereditary disorder in which the function of the nerve cells of the spinal cord occurs, leading to the progressive development of muscle weakness, muscle atrophy, and ultimately immobilization of the patient. SMA is one of the most common rare genetic diseases: it occurs in one newborn in 6-10 thousand. If there is a child with SMA in the family, he should receive palliative care, since the disease is progressive and currently incurable. However, the degrees of the disease are very different: some patients die in infancy, others live to old age.
Depending on the severity of symptoms, there are 3 main types of proximal SMA: SMA 1, SMA 2, SMA 3. The earlier the first signs of the disease appear, the more pronounced the symptoms, the more severe they are and the faster the disease progresses.
Our Tel Aviv Medical Clinic employs professionals in their field who have the necessary skills and abilities. We use the latest equipment and unique therapy methods. The wards of our department are equipped with everything necessary for the speedy recovery of patients. Our employees annually improve their qualifications in leading centers. We have set tariffs at the state level.
Symptoms
If you notice the occurrence of the following symptoms, you should immediately see a doctor:
- Severe muscle hypotension;
- sluggish child syndrome;
- does not hold his head;
- does not achieve the ability to sit and roll over;
- saggy body when held suspended on the stomach;
- weakened cough, sucking and swallowing reflexes;
- choking;
- respiratory disorders;
- severe delay in motor development;
- the rapid development of chest contractures and deformities;
- increased risk of complications after respiratory infection;
- difficulty with complex motor skills;
- as the disease progresses, you may have difficulty chewing and swallowing, as well as breathing and coughing problems.
A qualified specialist will conduct the necessary research and select the optimal therapy regimen.
Treatment
Unfortunately, there is currently no specific treatment for the disease. Only symptomatic therapy is possible: physiotherapy, massage, etc. For families who have already encountered this disease and want to have healthy children in the future, there are several prevention options: prenatal diagnosis, use of donor sperm and eggs, preimplantation genetic diagnosis (PGD). PGD allows examining embryos obtained with IVF even before pregnancy and choosing the one that did not inherit the disease. More and more families in the world prefer this kind of prevention.