Tashkent, Uzbekistan (UzDaily.com) -- According to a decree of the President of the Republic of Uzbekistan, in 2022, 115 billion soums will be allocated from the state budget for the purchase of medicines for patients with spinal muscular atrophy (SMA).

This year, Uzbekistan has joined Spinal Muscular Atrophy Awareness Month, which takes place in August around the world. On 24 August 2022, a press conference was held in Tashkent on the topic “The right to life of children with hereditary diseases. 2022 is a focus on SMA.” The organizer was NGO "SMA UMID".

Few people are able to provide a patient with SMA with life-long use of expensive drugs on their own. World practice is based on state provision of drug therapy.

In April of this year, the President of Uzbekistan signed Decree No. 217, according to which children with SMA will receive medicines and medical care free of charge.

“Taking care of our citizens who need support is an indicator of the generosity of society and the state,” said Elmira Basitkhanova, First Deputy Minister of Health of the Republic of Uzbekistan.

At the moment, 95 cases of SMA have been registered in Uzbekistan. For 76 people who were registered at the time of the release of PP No. 217, the state program for the free provision of medicines has been operating since June. After the decision was issued, 19 new patients were identified. In the near future, they will be included in the Unified National Register of Families with a Clinical Diagnosis of Spinal Muscular Atrophy and will have access to the state program.

It is important to understand that the treatment of spinal muscular atrophy must be lifelong and continuous. SMA is the result of a broken motor neuron gene, and therapy is the replacement of the function of the broken gene.

Spinal muscular atrophy is a disease in which the SMN1 gene is damaged. As a result of the mutation, a person does not produce a protein that is needed for the survival of motor neurons.

Motor neurons are an important part of the human spinal cord, from them signals go along long nerves to the skeletal muscles of the body.

If the motor neuron does not receive enough protein for its nutrition, then it quickly gets tired. He has to work for himself and "for that guy." Many motor neurons simply die from "fatigue" - the load on the remaining ones increases, and as a result they work with a monstrous overload. Because of fatigue, they cannot send signals to the skeletal muscles, thanks to which a person walks, sits, lies, swallows or breathes. Muscles are left without work, because no one asks them to do anything, and gradually die off.

Unfortunately, the number of patients in Uzbekistan is growing. According to statistics, a quarter of cases are children born in related marriages.

“In 2021, we, the parents and relatives of children with SMA, united and created the NGO “SMA UMID” to provide advice and support to families facing this disease,” said Sherzod Rakhmonov, Chairman of the Board of the NGO “SMA UMID”.

To check the fetus, pregnant women who are at risk (families where there is already a patient with SMA) must undergo molecular genetic diagnostics without fail. Material sampling for prenatal DNA diagnostics is carried out at the Republican Center "Screening of Mother and Child" and its regional centers.

“Clinical examples confirm that if treatment is started before the onset of the disease, then the child gets a chance for full development without the manifestation of SMA. Therefore, it is so important to conduct timely examinations of pregnant women who are at risk,” said Markhabo Shamsiddinova, head of the department of medical genetic counseling at the Republican Center for Mother and Child Screening. - For long-term (2-3 weeks) and regular rehabilitation, patients with SMA are also allocated beds in the Republican Children's Psychoneurological Hospital named after. Kurbanova".

SMA (spinal muscular atrophy) is a genetic neuromuscular disease that affects the motor neurons of the spinal cord and leads to progressive muscle weakness. The disease is progressive in nature, weakness begins with the muscles of the legs and the whole body and, with the development of the disease, reaches the muscles responsible for swallowing and breathing. At the same time, the intelligence of SMA patients is absolutely preserved.

Depending on the severity of symptoms, there are 3 main types of 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.