Updated on 06/07/2022
Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is a disease that causes damage to the nerves that control the muscles. Weakness develops in the muscles, gradually becomes non-functioning, and the person develops paralysis.
The age of contracting ALS is usually between the ages of 40-70, but it can also be seen in the twenties and thirties. It is 20% more common in men than women. Amyotrophic lateral sclerosis occurs without a family history in 90% of cases, which is called sporadic ALS. The remaining 10% is familial ALS, which is caused by the transfer of a mutated gene. 25-40% of familial ALS patients have a defect in the C9ORF72 gene. Interestingly, the same disorder is also seen in patients with fronto-temporal dementia. Therefore, some people with this mutation show signs of both motor neuron and dementia (ALS-FTD). Mutations in the SOD-1 gene are seen in 12-20% of familial amyotrophic lateral sclerosis.
The onset of ALS disease may be subtle and symptoms may initially be overlooked.
1. Weakness in the arms and legs - usually starts in one limb and then spreads to the others.
2. Difficulty speaking and swallowing
3. Slowness, stiffness in movements
4. Muscle twitching and muscle spasms
If the weakness begins in the hands or arms, there may be problems with buttoning or zipping, opening jars, catching and writing small items.
If the weakness started in the feet or legs, the person may feel heaviness in their legs, their toes may rub against the ground while walking, or they may fall.
If the weakness is in the head, neck or chest muscles, the person may experience stiffness in the jaw and problems opening their mouth, swallowing, speaking and drooling. He may not be able to close his eyes completely, he may not be able to hold his head up due to weakness in his neck muscles, and he may have trouble breathing.
Some ALS patients have mood changes. They may laugh, cry, or yawn inappropriately. Sometimes, ALS affects the mind and language, and the person may not be able to find the right words.
In addition to the patient's history and examination, a test that tests how the muscles and nerves work, which we call electromyography, is performed. In addition, brain and neck MRI, blood and urine examinations can also be performed to rule out some diseases in the differential diagnosis.
Although it varies from person to person, ALS is ultimately a progressive disease. Because ALS does not affect people's minds, patients are aware of their progressive loss, which can cause anxiety and depression. There is no complete cure for the disease.
Two groups of drugs used in the treatment slow the progression of the disease. In addition, treatment is performed for the patient's findings with methods that help breathing, nutrition, walking and speech. Physical therapy and special devices also help the person's independence and safety.