The Science Behind the Disease
Amyotrophic Lateral Sclerosis is a terminal neurodegenerative disease that attacks motor neurons in both the brain and spinal cord. These motor neurons signal muscles to move. When they are damaged or destroyed, the muscle deteriorates, causing weakness. Depending on which nerve cells are damaged, patients can experience limb onset, resulting in difficulty moving. Patients can also experience bulbar onset, which causes problems with speech or swallowing. A small number of patients experience respiratory onset, affecting breathing.
ALS usually occurs sporadically with no known cause. Five to ten-10 percent of cases can be attributed to genetic mutations. This typically occurs when the mutation is inherited by a family member, otherwise known as familial ALS. The most common genetic mutation found in patients with ALS is a repeat expansion of the C9ORF72 gene.
There is no one essential diagnostic test for ALS and the road to diagnosis may be different from one patient to another. Often, the diagnosis is established when other diseases or conditions that mimic ALS are ruled out.
Various tests are performed, including MRI scans, electrodiagnostic testing (EMG and nerve conduction studies), lumbar puncture, blood tests and genetic testing. A clinical diagnosis of ALS can be given relying on a combination of these tests with an in-person evaluation performed by a skilled neurologist.
Unfortunately, because ALS is still not fully understood, there is no cure. However, care given by a multidisciplinary team can help alleviate symptoms and prolong life expectancy. This team often offers respiratory care, physical/occupational therapy, nutritional strategies, and palliative care.
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