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Amyotrophic Lateral Sclerosis



Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig’s Disease, is a fatal, progressive neurological disorder.  It is estimated that 20,000 - 30,000 people are afflicted with ALS in the United States.  Men are more at risk for developing ALS than women and onset usually occurs in midlife.  ALS is characterized by the progressive deterioration of motor neurons that control voluntary muscle movement.  In the absence of sufficient innervation, voluntary muscles start to weaken and eventually atrophy and lead to paralysis.  Early symptoms of ALS include weakness of the arms and/or legs and are often limited to a specific region but eventually spread to the rest of the body as the disease progresses.  Individuals with ALS experience frequent tripping and stumbling, difficulty walking and climbing stairs, constant fatigue, twitching and cramping of muscles.  Eventually, bulbar muscles become affected and they will experience difficulty breathing, speaking and swallowing.


Diagnosis is made through a complete medical history and physical examination and may include an electromyogram (EMG), blood and urine analysis, x-rays and CT scans to eliminate other motor neurological disorders with similar symptoms.  There is currently no cure or effective treatment to reverse or slow the progression of ALS.  Once diagnosis is made, physicians and caretakers aim to improve or maintain a normal quality of life for as long as possible.  Physical therapy and a regular exercise regime are essential in maintaining muscle strength and range of motion.  As the disease progresses, other assisted devices such as a feeding tube and wheelchair may eventually be necessary.


The exact cause of ALS is currently not known.  Approximately 10% of ALS are of genetic origin, the rest are sporadic.  Various factors are suspected to be involved in ALS.  An excess of free radicals and/or the neurotransmitter glutamate may be involved, however, whether they are the cause or the effect of the disease and the mechanism by which they are involved is unknown.


Once diagnosed with ALS, it is important to determine whether it is hereditary or not.  A thorough genetic analysis may reveal a familial history and a genetic counselor can advise a couple of the chances of having an affected child.  Preimplantation Genetic Diagnosis (PGD) may be an option to some.  Due to the higher risk males face in developing ALS, PGD could be quite beneficial for it is able to determine the gender of an embryo prior to implantation.  This reduces the chances of having an affected child.  It is strongly recommended that couples seek the advice of a genetic counselor.  Inheritance patterns of diseases are complex and genetic counselors can determine whether PGD will be beneficial.  Although the use of PGD is currently limited in the prevention of ALS, further research and investigation into the causes of ALS may reveal a larger role for genetics.  This, along with continual improvements in PGD, will hopefully lead to greater utilization of such a technique.



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Last modified: 06/09/04