A diagnosis of ALS is often accompanied by feelings of fear, frustration, sadness, and anger. Amyotropic lateral sclerosis (ALS) affects about 6,000 Americans every year and usually appears in midlife. In order to better cope with a diagnosis or help a loved one going through it, education is important. Understanding what we do know about the disease can be beneficial. The image below outlines some of the potential contributing factors to ALS.
ALS can be difficult to clinically diagnose because there is no test for it. It is diagnosed by ruling out other options such as: thyroidtoxicosis, cervical spondylosis, diabetes affecting brachial plexus, carpal tunnel syndrome or lesion on the elbow, neuropathy, chronic inflammation, myasthenia gravis, sclerosis, spastic paraplegia. Only about 10-15% of people have a false positive diagnosis.
After a diagnosis you visit the doctor every 3-6 months. At an ALS Association Certified Center of Excellence, your team typically consists of the neurologist, RN, speech pathologist, respiratory therapist, physical therapist, occupational therapist, dietician, rehab tech, and a social worker. You can participate in clinical trials for new drug treatments if you fit the criteria.
The current understanding of the pathology of the disease is limited and there are many factors affecting the onset of ALS. We know that oxidative stress causes changes in the cell that contribute to the death of motor neurons. As you can see in the drawing, in the presence of oxidative stress, stress granules form and remove TDP43 and FUS from the nucleus (information center) of the cell. TDP43 and FUS are critical to cell function, and when they are removed from the nucleus and clump up in the cell, it causes damaging effects seen in ALS patients.
Treatment of ALS is very difficult to find because of the complicated nature of the disease. Researchers have not been able to find the key target that would stop or reverse the effects of the disease. The current drug on the market Riluzole only prolongs life by 2-3 months and is an antiglutamate drug acts by reducing levels of excess glutamate found in the nervous system. Current clinical trials are in progress for trying to use stem cells to promote neuron survival and growth. Because 90-95% of cases are sporadic it is difficult to pin down a genetic sequence that is inherited to explain the cause of the disease. It also tends to be found in Caucasians and is more common in males than in females.
While this disease is scary, it needs to be talked about to raise awareness and help work toward finding a cure. In order to better cope, it is helpful to join a support group and learn as much as you can about the disease. It is recommended to maintain a good lifestyle, healthy eating, exercise and time with loved ones.
For more information see: http://www.alsa.org/