Amyotrophic lateral sclerosis

Defined

ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening ("sclerosis") in the region.

Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, people may lose the ability to speak, eat, move and breathe. The motor nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for a smart phone or step off a curb. These actions are controlled by the muscles in the arms and legs.

There are two different types of ALS, sporadic and familial. Sporadic, which is the most common form of the disease in the U.S., accounts for 90 to 95 percent of all cases. It may affect anyone, anywhere. Familial ALS (FALS) accounts for 5 to 10 percent of all cases in the U.S. Familial ALS means the disease is inherited. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease. French neurologist Jean-Martin Charcot discovered the disease in 1869.

Recent years have brought a wealth of new scientific understanding regarding the physiology of this disease. There are currently four drugs approved by the U.S. FDA to treat ALS (Riluzole, Nuedexta, Radicava, and Tiglutik). Studies all over the world, many funded by The Association, are ongoing to develop more treatments and a cure for ALS. Scientists have made significant progress in learning more about this disease. In addition, people with ALS may experience a better quality of life in living with the disease by participating in support groups and attending an ALS Association Certified Treatment Center of Excellence or a Recognized Treatment Center. Such Centers provide a national standard of best-practice multidisciplinary care to help manage the symptoms of the disease and assist people living with ALS to maintain as much independence as possible for as long as possible. According to the American Academy of Neurology’s Practice Paramater Update

, studies have shown that participation in a multidisciplinary ALS clinic may prolong survival and improve quality of life. Click here to find a Center near you.

https://www.als.org/understanding-als/what-is-als

Diagnosis

ALS is a difficult disease to diagnose. There is no one test or procedure to ultimately establish the diagnosis of ALS. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive diagnostic workup includes most, if not all, of the following procedures:

  • Electrodiagnostic tests including electomyography (EMG) and nerve conduction velocity (NCV)

  • Blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals

  • Spinal tap

  • X-rays, including magnetic resonance imaging (MRI)

  • Myelogram of cervical spine

  • Muscle and/or nerve biopsy

  • A thorough neurological examination

These tests are done at the discretion of the physician, usually based on the results of other diagnostic tests and the physical examination. There are several diseases that have some of the same symptoms as ALS, and most of these conditions are treatable. It is for this reason that The ALS Association recommends that a person diagnosed with ALS seek a second opinion from an ALS expert - someone who diagnoses and treats many ALS patients and has training in this medical specialty.  The ALS Association maintains a list of recognized experts in the field of ALS. See The ALS Association Certified Centers and ALS Clinics. Also contact your local ALS Association chapter or the National Office.

https://www.als.org/understanding-als/symptoms-diagnosis

Treatment

Treatments can't reverse the damage of amyotrophic lateral sclerosis, but they can slow the progression of symptoms, prevent complications, and make you more comfortable and independent. You might need an integrated team of doctors trained in many areas and other health care professionals to provide your care. This might prolong your survival and improve your quality of life. Your team will help you select the right treatments for you. You have the right to choose or refuse any of the treatments suggested.

https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/diagnosis-treatment/drc-20354027

Drugs

Current research & peer reviewed journals

Support Groups

Patient /Family Stories

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