ALS (Amyotrophic lateral sclerosis) is a disease characterized by muscle weakness and degeneration due to damage in the motor neurons that stimulate the muscles. The exact cause of ALS is unknown. Genetic and external factors can lead to deterioration in the upper and lower motor neurons that connect the brain and muscles. Stimuli do not reach the muscles, and voluntary movements cannot be performed properly.
The initial symptoms of ALS can vary from one patient to another. Typically, weakness or atrophy in one arm or leg is the first noticeable sign. Difficulties in performing daily activities (such as holding a pen, carrying a glass, buttoning clothes, walking, stumbling, or even falling) may be observed. Sometimes the disease starts with speech or swallowing difficulties. The patient or their close ones may notice slurred or nasal speech. Twitching, pain, and cramps in the muscles accompany these symptoms. Respiratory and chest muscles can be affected, leading to difficulty in breathing. Uncontrollable crying and laughter may also occur.
The disease does not affect all muscles in the body. The patient can control their bowel and bladder functions, and sexual functions are not affected. The heart muscle remains unharmed. Eye muscles are often the last to be affected or may not be affected at all.
Who Gets ALS?
The disease can occur in individuals from all regions and backgrounds worldwide. It is slightly more common in males. Although the average age of onset is 55, it can occur at a young age or in advanced age. Approximately 2-6 per 100,000 people in the population are affected by ALS. It is estimated that 2-6 out of every 100,000 individuals are diagnosed with ALS each year. About 90% of all ALS cases are sporadic, while the remaining 10% are familial ALS cases. Therefore, it can be said that the disease is mostly unrelated to inheritance. In recent times, many mutations related to ALS have been identified. Structural abnormalities have been detected in the gene that encodes the superoxide dismutase (SOD) enzyme, primarily located on the 21st chromosome. Additionally, higher levels of a substance called “glutamate,” which plays a significant role in brain nerve conduction, have been found in ALS patients. It is known that excessive glutamate can damage nerve cells. Disturbances in cellular metabolism, oxidative stress, immune system disorders, as well as exposure to environmental factors such as smoking, lead, mercury, aluminum, infections, and head trauma, are considered among the causes of ALS.
The diagnosis of ALS is made by a neurologist based on symptoms, clinical examination, electromyography (EMG), magnetic resonance imaging (MRI), certain blood and urine tests, and evaluation of cerebrospinal fluid (CSF).
The course of ALS varies in each patient. Although the average survival time is generally given as 4-6 years, many patients live for 10 years or more. Some ALS patients who receive good medical and social support live for more than 20 years.
How Is ALS Treated?
Unfortunately, there is currently no proven definitive treatment for ALS. However, it has been proven that Riluzole, which inhibits glutamate release, slows down the progression of the disease, prolongs the patient’s lifespan, and allows them to function for a longer time. Since multiple factors contribute to the development of ALS, numerous studies are actively ongoing to find drugs for definitive treatment, as well as gene therapies and stem cell treatments. It is crucial to make the patient as comfortable as possible and take measures to enable them to maintain their normal life. Respiratory rehabilitation, physical therapy, swallowing and speech therapy, and psychological support should be determined according to the patient’s needs and implemented as soon as possible.
