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| Robert White, MD Neurological Associates, Inc. |
In 1865, Jean-Martin Charcot, who is considered to be the father of
neurology, described a patient with muscle spasms that ultimately led to the
establishment of ALS as a specific disease entity. The public’s attention was
drawn to this disorder in 1939. During
the 1938 baseball season, Lou Gehrig went into a hitting slump that worsened as
the season progressed. In June of 1939, because of then apparent muscle
weakness, he and his wife went to the Mayo Clinic for evaluation. On June 14,
1939, on his 36th birthday, he was told that he was suffering from
Amyotrophic Lateral Sclerosis (ALS). Yankee fans made July 4th of
that year "Lou Gehrig Appreciation Day." He passed away on June 2,
1941.
Currently, there are about 7,000 new cases diagnosed in the United
States each year. There is an inherited form ("familial ALS") that
accounts for 5-10% of these cases. There is no racial or ethnic predisposition,
and the peak occurrence is the seventh to eighth decades with men and women
being affected equally.
The initial symptoms of ALS can occur in any segment of the body (arms,
trunk, legs, or head and neck muscles). Limb weakness that is much more prominent
on one side versus the other is the most common presentation, occurring in 80%
of patients. When symptoms began in the upper extremities, the most common
finding is painless hand weakness and atrophy. The most common lower extremity
presentation is a so called "foot drop" in which the individual
cannot cock up the ankle. Finally, 20% of patients will have initial symptoms
of slurring of words or difficulty swallowing.
Later symptoms can include cramping, muscle stiffness, poor balance, and
poor dexterity, to name a few.
Over the years, a host of factors have been thought to increase the risk
of acquiring ALS. These have included exposure to welding, mercury, lead,
aluminum, electric shock and many others. However, to date, the only
established risk factors are age and family history. There are a number of gene
mutations being studied in non-familial ALS. These have provided clues to
identify possible susceptible genetic influences, but they are not definitive
and further research is needed.
There is no single test that exists today to specifically diagnose ALS. Physicians
make the diagnosis when it is suggested by the history rendered by the patient,
their general and neurological examinations, electrodiagnostic studies (EMG)
and exclusions provided by neuroimaging (MRI) and laboratory studies. The
history one most commonly hears is that of painless weakness in a limb. Physical
exam can show any one of a number of findings including weakness, atrophy,
brisk reflexes (when using the reflex hammer) and fasciculations (involuntary
muscle twitching). EMG (electromyography) can be very helpful but, in and of
itself, cannot confirm the diagnosis. Finally, laboratory studies done to
exclude conditions that mimic this disorder are also essential. It is only
after a thorough evaluation as outlined above that one can arrive at this
diagnosis. It is important to note that there are a number of medical
conditions that can look very similar to ALS and most always be considered and
excluded.
Unfortunately, at the present time, there is no cure for this disorder,
but that is not to say that there is nothing to offer individuals who have this
diagnosis. Physical, occupational, and speech therapy can be beneficial. The
most effective approach to patient management has been the team concept which
may consist of the neurologist, physiatrist, pulmonologist (to address
respiratory issues), physical, occupational and speech therapists, psychologist,
and social worker. Pharmacologic options (medicines), in terms of disease
treatment, are quite limited.
The words of Lou Gehrig are perhaps the most fitting way to conclude:
"When the New
York Giants, a team you would give your right arm to beat, and vice versa,
sends you a gift - that's something. When everybody down to the groundskeepers
and those boys in white coats remember you with trophies - that's something.
When you have a wonderful mother-in-law who takes sides with you in squabbles
with her own daughter - that's something. When you have a father and a mother
who work all their lives so you can have an education and build your body -
it's a blessing. When you have a wife who has been a tower of strength and
shown more courage than you dreamed existed - that's the finest I know. So I
close in saying that I might have been given a bad break, but I've got an awful
lot to live for.”
If you have any questions about ALS symptoms of
diagnosis, general neurologic disorders, or would like to schedule a
consultation with Dr. Robert White, please call Neurological Associates,
part of HCA Virginia Physicians, at 804.288.2742. hcavirginia.com
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