Found in a mere 1-3 people per 100,000, amyotrophic lateral sclerosis (ALS) is a rare but deadly neurological disease that causes muscle weakness, disability and eventually death. Known also as the Lou Gehrig’s disease, after the baseball player who was diagnosed with it in 1939, the cause of this debilitating condition remains unknown in about 90 per cent of the cases. The remaining five to ten per cent are hereditary. Starting innocuously enough with twitching of muscles, weakness in an arm or leg or slurred speech, ALS is known to progress rapidly and eventually disable the nerve cells that control the muscles needed to move, speak, eat and breathe. Researchers are studying several possible causes of ALS, including: Gene mutation: Various genetic mutations can lead to inherited forms of ALS, which appear nearly identical to the non-inherited forms.Chemical imbalance: People with ALS typically have higher than normal levels of glutamate in their spinal fluid. Too much glutamate, a chemical messenger in the brain, is known to be toxic to some nerve cells. Disorganized immune response: Sometimes an immune system attacks the very body it is designed to defend, triggering a process that may lead to ALS. Protein mishandling: There’s evidence that when mishandled, proteins become abnormal and an accumulation of such abnormal proteins can kill the nerve cells. The disease does not affect a person’s ability to see, smell, taste, hear or recognize touch. However, several recent studies suggest that some people with ALS may develop cognitive problems involving word fluency, decision-making, and memory.
Since ALS mimics the symptoms of several other similar neurological conditions and is, therefore, difficult to diagnose, doctors at BRAINS may want suspected patients to go through several tests essentially to rule out other possibilities. These may include electromyogram, nerve conduction study, MRI, blood and urine tests and muscle biopsy (see Technology & Procedures). Results from these diagnostic studies in combination with an expert analysis of a patient’s symptoms and medical history are often enough for the doctors to make a firm diagnosis.
Since there’s no reversing the course of amyotrophic lateral sclerosis, treatments mainly involve efforts to slow the progression of symptoms and make you more comfortable and independent. The drug riluzole (Rilutek), the first and only medication approved by the Food and Drug Administration for slowing ALS, appears to slow the progress of the disease in some people, perhaps by reducing the levels of glutamate — a chemical messenger in the brain that’s often elevated in people with ALS. Your doctor may also prescribe medications to provide relief from many of the symptoms of ALS such as muscle cramps, constipation, fatigue, excessive salivation, excessive phlegm, pain and depression.
In addition to the drugs, a physical therapist at BRAINS may recommend low-impact exercises to maintain your cardiovascular fitness, muscle strength and range of motion as long as possible, helping you preserve a sense of independence. Regular exercise can also help improve your sense of well-being. Similarly, an occupational therapist can help you become accustomed to a brace, walker or wheelchair and may be able to suggest devices such as ramps that make it easier for you to get around. Since ALS affects the muscles you use to speak, communication becomes an issue as the disease progresses. A speech therapist can help teach adaptive techniques to make your speech more clearly understood or help you explore alternative methods of communication, such as an alphabet board or simple pen and paper.