The Ministry of Public สล็อต Health defines "rare disease" as a disease that has fewer than 10,000 cases in Thailand, so it is often ignored because it is a disease that is not known or affects most people. But actually It is estimated that the combined number of cases of rare diseases of more than 7,000 may be as high as 300 million worldwide. It is therefore extremely important to raise awareness and drive effective treatment for patients affected by rare diseases. In order to improve the quality of life of the patients Have been properly rehabilitated for both physical and mental conditions At the same time, it also reduces the impact on the wealthy on the patient's status Family and society
However, the treatment of rare diseases is still something that society may overlook. Due to the lack of specialist doctors and the need for technology Budget for research and development Plus advanced screening, diagnosis and treatment expertise
Recognize the SMA muscle weakness
Spinal Muscular Atrophy (SMA) is a rare disease caused by a inherited disorder in a recessive gene. If the parent is both carriers There is a high chance of up to 1 in 4 that your child will have this disease. The hereditary disorders affect the nervous system and muscles. Causing nerve cells to continually lose signaling from the spinal cord to the muscles
The approximate incidence of SMA is found in 1 neonate worldwide in 10,000 people each year, and the rate of carrier weakness is 1: 40–1: 60. Opportunities are found second most frequently after Roch Thalassemia. It is also one of the leading causes of death in infants and young children. If an accurate diagnosis is not received or treated promptly
Situation of SMA patients in Thailand
Assoc. Prof. Oranee Saenmanechai Member of the Muscular Weakness Foundation Lecturer in Neurology Department of Pediatrics Faculty of Medicine Siriraj Hospital said, “At present, there is no registration of SMA patients in Thailand, so we cannot clarify the exact number of cases. 1:50 if calculated from the population of the country Will find that Thailand has about 10,000-20,000 cases of SMA
Symptoms of SMA
SMA is present from birth to childhood. Patients will experience weakness in limbs, some may have difficulty breathing. The livelihood of a myocardial disease patient depends on the severity of the symptoms and the age of onset. Which makes it difficult to move As a result, some patients could not live normally and now rely on palliative treatment. With rehabilitation treatment such as physical therapy
As for the specific treatment, it is gene therapy, which requires a specialist team of doctors and therapists. Whether the patient Medical professionals, government and non-government organizations It is therefore important to increase access to and expand treatment options for patients.
Treatment of patients with SMA
Nowadays, innovative treatment for muscle weakness in adults and children aged 2 months and over has been clinically proven to significantly improve the performance of motor neurons. According to more than two clinical trials in the sample population with different ages and severity.
Dr. Sansanee Lertritruangsin, MD. Head of the Medical Department of Roche Thailand Co., Ltd. stated that "innovative drug for the treatment of muscle weakness. It is a major medical breakthrough. Especially in the field of rare diseases such as SMA, the drug can improve the baby's chances of survival without the need for a permanent ventilator. This allows the patient to sit unattended and perform routine tasks that were not previously possible, such as brushing and combing their hair on their own. This is a big improvement in the treatment of SMA "
SMA and other rare diseases It is a disease that should not be overlooked. It also requires a proper understanding of the patient's behavior. And receiving encouragement from the people around To have the most complete and normal quality of life both physically and mentally. Follow more news about muscle weakness at Facebook Thailand Foundation for Musculoskeletal Diseases