Yesterday club meeting decided to support the treatment of Agata Klaudia Kopeć, with 5.000 PLN, who suffer from SMA.
What is SMA?
SMA Spinal Muscular Atrophy, a neuromuscular disease with genetic. SMA die neurons in the spinal cord responsible for muscle function, as a result, muscles of the body weaken and gradually fades.
Traditionally, the disease is classified into four types, or the form depending on the stage of development of the musculoskeletal apparatus, where it has been observed, and so indirectly from the age. In infants and young children the first symptoms usually appear suddenly, and the patient’s condition is deteriorating rapidly. The rapid loss of limb muscles are, trunk, lungs and esophagus, which usually leads to respiratory failure and loss of swallowing. SMA is the most common genetic cause of death according to infants and young children.
In older patients, the disease usually grieving. However, always sick gradually weakens and loses the ability to move around.
Proper care can significantly slow down the progression of the disease.
Feeling and touch are not impaired in SMA, and the development of the cognitive and emotional runs normally. Children with SMA are usually intelligent, cheerful and derive great joy from life.
SMA develops as a result of genetic defect (mutation) in the gene responsible for encoding the SMN-special protein necessary for the functioning of the motor neurons. This mutation is in Poland, one in 35-40 people. If both parents are carriers of this defect, there is a 25% risk that their child will have SMA.
The prevalence of SMA in Poland is not known. The frequency of mutations claimed that at some point of life for SMA gets sick one in 5000-7000 people, which would give the prevalence of row 1:10000 in the population. The latest figures are based on data from genetic laboratories indicate a lower incidence of the disease: ok. 400-800 people in Poland.