THEA news announced by Eric Dane himself, famous for the role of “McSteamy” in Grey’s Anatomy, has aroused everyone’s interest and attention on SLA, amyotrophic lateral sclerosis (SLA)rare neurodegenerative disease but famous for its rapid evolution and for the serious disability it involves. It affects every year about 2-3 people per 100,000 inhabitants. Famous other cases of ALS concern Stephen Hawkingthe famous theoretical physicist who lived with the disease for over 50 years, one of the few cases of long survival. But what exactly is this disease, how does it manifest and develop?
What happens in the body during SLA
In the SLA, i motorbikeswhich transmit the signs from the brain to the muscles, gradually degenerate and die. The consequence is that i muscles no longer receive the necessary signals to workleading to muscle weakness and to the paralysis. In the most serious cases, SLA compromises also breathingsince the respiratory muscles are also under the control of motor neurons. However, the cognitive and sensory functions remain generally intactalthough some people with Sla can develop cognitive difficulties in the most advanced stages of the disease. Source “ALS: Epidemiology, Pathogenesis and Therapeutic Strategies ”Pubmed.
SLA: symptoms and diagnosis
The initial symptoms of ALS can be subtle and vary from person to person, But often they include muscle weakness, difficulty walking, talking, chewing or swallowing. In some cases, the disease can start with a one -hand or a foot annoyance, but over time it spreads to the whole body. There diagnosis is difficult to establish at the beginningsince Sla is a disease that presents itself similar to other neurological disorders. Doctors usually perform a series of exams, including the magnetic resonance imaging (RMN)theelectromyography (EMG) and blood tests to exclude other diseases.
Sla and genetics
Although the exact cause of ALS is not yet completely understood, about 5-10% of cases are hereditary. The family form of ALS can be caused by genetic mutations that prepare motorhoons to degeneration. However, most cases are sporadic, that is, it does not have an evident genetic cause, and develops without a family history of the disease. Source “Genetics of Amyotrophic Lateral Sclerosis: a review” PubMed.
The care today and in perspective
Currently, There is no cure for ALS, but they are available treatments that can slow down its course and improve the quality of life. Drugs, like the reluctance and the buddyare approved for slow down the progression of the disease. There physiotherapythe speech therapy and the respiratory support They are other important options to manage symptoms and help people maintain their autonomy as long as possible. Source “Amyotrophic Lateral Sclerosis (ALS): Pathogenesis and recent Advances in Diagnosis and Therapy”Pubmed Central (PMC).
To date there are no care but for a particular form, the one in which there is one Mutation in the SOD1 genesomething begins to move. The results of a recent clinical study recently published by the magazine New England Journal of Medicine, They say we are on the right way: the use of TOFERSENa molecule capable of “stopping” the abnormal activity of Sod1, has proven useful in reducing the quantities of “toxic” proteins that cause the disease. An important result that, although not representing the cure for ALS, opens interesting prospects in controlling the disease and its evolution.
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