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Lou Gehrig’s Disease, Symptoms and Treatment

Abstract

Lou Gehrig’s disease {familial or sporadic} is a neuromuscular disorder that targets the upper and lowers motor neurons. There are no specific causes, though viruses, neurotoxins and others are suspected. Symptoms begin with unsteady gait and speech difficulty, lead to more serious flexion and hypotonia before proceeding to paralysis and death. Diagnosis involves tests like EMG, MRI and X-rays. Treatment involves drugs like Riluzole, Baclofen and NSAIDs. Recent research breakthroughs include Koji Yamanaka’s proof that 2 types of glial cells should be targeted, Tom Kwiatkowski and his team finding a new gene called ALS6 that causes the disease, and Peter Carmliet’s proof that VEGF is a good potential treatment. It is hoped that an endurable cure will soon be discovered.

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Despite the laudable efforts of scientists and researchers to find cures for most of the deadly diseases that affect people all over the world, there still exist several ailments for which no cure has yet been found. Prominent among are Parkinson’s, Tay-Sachs, Multiple Myeloma, HIV/AIDS and Amyotrophic Lateral Sclerosis {ALS}, also known in the U.S as Lou Gehrig’s disease.

What is Lou Gehrig’s disease?

Amyotrophic Lateral Sclerosis {ALS} is a neuromuscular disease that affects people all over the world. The name has Greek origins, literally meaning ‘muscles having lost their nourishment,’ with ‘a’ standing for ‘without,’ ‘my meaning ‘muscle,’ ‘trophic’ standing for ‘nourishment,’ ‘lateral’ signifying ‘the side of the spinal cord’, and ‘sclerosis’ meaning ‘hardening.’ People in the U.S refer to ALS as Lou Gehrig’s disease due to its association with the famous New York Yankees baseball star (Dowshen, 2009, page 1, para.3). Gehrig, called ‘Iron Horse,’ was diagnosed with the disease in 1939 and died at the young age of 37 in 1941 (Riken Research, 2008, para.2). People in France call the disease ‘Maladie de Charcot’ due to its association with Jean-Martin Charcot, a French physician who first described ALS in writing in 1869. The English and Australians call the disease ‘Motor Neuron Disease’ {MND} (Dowshen, 2009, page 1, para.3).

Lou Gehrig’s disease targets motor neurons {part of the nervous system that links the brain and skeletal muscles that are implicated involuntary movements of an individual like breathing, walking and talking}. There are two types of motor neurons: upper and lower. The former sends signals to nerves in the brain and spinal cord, while the latter sends signals to the skeletal muscles. (Neurology Channel, 2009, Overview, para.2) Lou Gehrig’s disease progressively weakens the neurons, making them shrivel, die and vanish, eventually leading to paralysis and death (Neurology Channel, 2009, Overview, para.3).

There are two classifications within Lou Gehrig’s disease. The first, called Familial ALS, is contracted from family members and is connected to cases of genetic deficiency of chromosome 21 {a gene which has an antioxidant called Superoxide Dismutase [SOD] that safeguards motor neurons from great damage (Neurology Channel, 2009, Risk Factors, para.1). The second is called Sporadic ALS, meaning that in this case there are no hereditary connections (Dowshen, 2009, page 2, para.2).

Incidence in the Population

The findings of the ALS Association have revealed that, while Lou Gehrig’s disease has the capability of victimizing anyone, kids are rarely struck with it. Persons between the ages of 40 and 70 are susceptible (Dowshen, 2009, page 2, para.1) with no distinction made between race, ethnicity or socioeconomic background although it does tend to target males more than females (Neurology Channel, 2009, Incidence & Prevalence, para.1). In the U.S, the number of cases is very few {annually only about 2 per 100,000 individuals}. In addition, between 5 and 10% of patients inherit the disease from family members, while the remaining 90% are Sporadic ALS victims (Dowshen, 2009, page 2, para.2). There are presently about 30,000 patients in the U.S (Neurology Channel, 2009, Incidence & Prevalence, para.4).

On a global basis, there is a definite trend of increasing Lou Gehrig disease patients. It is estimated to strike 5 out of every 100,000 individuals in the world (Bio-Medicine, Page 1, para.1). Japan presently has 6,000 patients with an alarming prospect of 2,000 additional patients surfacing annually (Riken Research, 2008, para.4).

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Causes

Lou Gehrig’s disease targets healthy individuals in the prime of their lives with no earlier family hereditary history involving the illness (Bio-Medicine, Page 1, para.1). Although physicians researchers and physicians still differ on the exact causes of ALS, it is generally believed that viruses, neurotoxins, presence of heavy metals {like lead} in blood, DNA deficiencies {particularly in familial ALS}, immune system retardation and enzyme retardation (Neurology Channel, 2009, Causes, para.1). There is also proof that the immune system may be implicated as high amounts of glutamate can destroy motor neurons after initially over-stimulating them (Neurology Channel, 2009, Risk Factors, para.2).

Symptoms

While symptoms of Lou Gehrig’s disease differ among patients, the first indication {in over 50% of them} is in the form of muscle weakness {particularly in the limbs}. Other early symptoms include unsteady gait and dexterity, speech difficulty and swallowing problems (Dowshen, 2009, page 2, para.3). The following symptoms indicate that the upper motor neurons are infected: FTD {frontotemporal dementia}, clonus {quickly functioning muscle contracting and relaxations}, dysphagia {difficulty in swallowing}, spasticity {greater muscle tone and rigidity} and hyperactive tendon reflexes (Neurology Channel, 2009, Signs & Symptoms, para.3). Other symptoms include areflexia {lack of spinal reflexes}, hypotonia {loss of muscles tone}, fasciculations {muscle contractions} and atrophy {muscle wasting} (Neurology Channel, 2009, Signs & Symptoms, para.2).

Diagnosis

Since Lou Gehrig’s disease basically targets skeletal muscles, neurological tests normally do not show any sensory reflexes {such as sight, taste, hearing, smell or bowel movement} abnormalities (Neurology Channel, 2009, Diagnosis, para.3). Doctors are careful to monitor the exact symptoms of patients over a long period which may stretch to many months, and conduct special medical tests to be sure it is Lou Gehrig’s disease and not some other nerve-muscle disorder like Parkinson’s disease or stroke. These tests include EMG {Electromyogram}, X-rays, MRI {Magnetic Resonance Imaging} to check for brainstem or spinal cord disease, lumbar puncture or spinal tap to analyze cerebrospinal fluid for genetic disorders, blood/urine examinations, and in some cases, a biopsy of sample tissue of the muscle or nerve (Dowshen, 2009, page 2, para.5).

Treatment

No cure has yet been found for Lou Gehrig’s disease. Therefore, treatment presently concentrates on alleviating symptoms and promoting the most favorable quality of life (Neurology Channel, 2009, Treatment, para.1) by neurologists {doctors who specialize in treating brain and spinal cord disorders} (Riken Research, 2008, para.6).

A popular treatment is Riluzole {Rilutek} which is a tried and tested drug {it reduces the secretion of glutamate} that retards progression of the disease and extends the life of patients by a few months. However, there are several adverse side effects when this drug is used, such as giddiness, production of larger amount of liver enzymes, asthenia {weakness} and granulocytopenia {lesser leukocytes in the blood}(Neurology Channel, 2009, Treatment, para.1 & 2).

The second popular drug used is NSAIDS {Nonsteriodal anti-inflammatory drugs} like ibuprofen and naproxen which bring relief to general discomfort. NSAIDS may cause detrimental side effects like great gastrointestinal and cardiovascular discomforts. Other popular drugs include Baclofen {Lioresol} and Ortizanadine {Zanaflex}, both of which bring relief to spasticity. However, they also have some detrimental side effects such as elevated levels of weakness, sedation and giddiness (Neurology Channel, 2009, Treatment, para.3).

In addition to administering the above drugs, physical therapy is highly recommended to be undertaken in tandem to reduce cramping and muscular pain, in addition to speech therapy, advice from a nutritionist, respiration therapy, anti-depressant medication and counseling (Neurology Channel, 2009, Treatment, para.4, 5 & 6). It is usual for a qualified medical attendant {nurse or health assistant} to visit the patient’s home regularly to help the family take proper care of the afflicted person (Dowshen, 2009, page 3, para.3). Special equipment {such as power wheelchairs to enable movement, and ventilators to enable breathing} are frequently used to help patients (Dowshen, 2009, page 3, para.2).

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Recent Research

There have been several encouraging efforts into finding a cure for Lou Gehrig’s disease.

In the first instance, Koji Yamanaka, a neurologist from Japan who published his findings in February 2008, has successfully proved for the first time that two types of glial cells {microglial and astrocytes} surrounding motor neurons should be targeted to halt the progress of the disease (Riken Research, 2008, para.21). This discovery is exciting because it is a departure from the traditional method of only targeting motor neurons as far as attempts to find a successful cure are concerned (Riken Research, 2008, para.12). Yamanaka and his team next plan to ascertain the molecular mechanisms developing in these two glial cells with the aim of finding a treatment involving transplanting them in a certain place so that they can at once begin their functions to halt the progress of the disease (Riken Research, 2008, para.22).

Coming 12 months after SODI, the first Lou Gehrig disease-causing gene was discovered in 1993 (The ALS Association, para.11), another breakthrough pioneered by a group of scientists {led by Tom Kwiatkowski, Robert Brown, Caroline Vane and Christopher Shaw} (The ALS Association, para.3) who are sponsored and funded by the ALS Association, in February 2009 discovered ALS6, a new gene that causes about 5% of familial ALS. Excited researchers tout the finding as a “new pieces of the puzzle” that can be utilized to explore why Lou Gehrig’s disease progresses and which specific areas to target in order to develop new treatments with the ultimate aim of trying to find a cure for the disease (The ALS Association, para.2).

A third breakthrough has come from a research team from the Flanders Interuniversity Institute for Biotechnology led by Professor Peter Carmeliet. He proved that if the VEGF {Vascular Endothelial Growth Factor} protein is administered, it acts as a remedy to prolong the life of patients. Although Carmeliet’s experiments have so far been conducted only on rats, his findings have made the possible use of VEGF a good potential treatment for human patients (Bio-Medicine, Page 1, para.1).

Conclusion

While commendable efforts have so far been made by researchers all over the world, and ongoing research still continues, researchers have so far only been able to find new ways of retarding the progress of Lou Gehrig’s disease, while unfortunately not being able to find a cure for it.

Over the years, Lou Gehrig’s disease has fatally struck several famous personalities all over the world. In addition to star baseball player Lou Gehrig of the U.S, Chinese Communist leader Mao Tse Tung and Russian music composer Dmitri Sjostakowitz have also become its victims (Bio-Medicine, Page 1, para.12. Due to the fact that most patients presently do not survive beyond 10 years, Lou Gehrig’s disease has emerged as one of the most dreaded disorders afflicting mankind. Among all the sense of déjà vu, hopelessness and despair, the case of Stephen Hawking stands out like a shining beacon amidst stormy waters. Ever since he was diagnosed with the disease at the age of 21, Hawking, a U.K physicist, holds the world record for surviving Lou Gehrig’s disease for an astounding 4 decades. The way he lives his life epitomizes the ‘never-say-die’ attitude of mankind that some heroic individuals exhibit. He continues to battle the disease while living a normal life with his wife and 3 children, defiantly declaring: “The prospect of a short life [has] made me want to do more. [Lou Gehrig’s disease] has not prevented me from having a very attractive family and being successful in my work. It shows that one need not lose hope” (Dowshen, 2009, page 3, para.9).

It is hoped that world researchers come up with an endurable cure soon in order to save the life of this brave man, as well as scores of other patients who are resigned to fighting a losing battle {it has prompted many of them to opt for euthanasia to end their lives prematurely (Bio-Medicine, Page 1, para.3)} against the dreaded disease called Lou Gehrig’s disease.

References

Amyotrophic Lateral Sclerosis (ALS)/Lou Gehrig’s disease. (2009). Web.

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Breaking News: New Gene Mutation Discovery by ALS Association Consortium is Major Research Breakthrough. (2009). Web.

Dowshen, S. (2009). Lou Gehrig’s disease (ALS). Web.

Focusing on Glial Cells to Overcome an Intractable Disease ALS. (2008). Web.

Promising Results in the Battle against Incurable ALS Muscle Disease. (2009). Web.

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StudyCorgi. (2021, October 30). Lou Gehrig’s Disease, Symptoms and Treatment. Retrieved from https://studycorgi.com/lou-gehrigs-disease-symptoms-and-treatment/

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StudyCorgi. (2021, October 30). Lou Gehrig’s Disease, Symptoms and Treatment. https://studycorgi.com/lou-gehrigs-disease-symptoms-and-treatment/

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"Lou Gehrig’s Disease, Symptoms and Treatment." StudyCorgi, 30 Oct. 2021, studycorgi.com/lou-gehrigs-disease-symptoms-and-treatment/.

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StudyCorgi. "Lou Gehrig’s Disease, Symptoms and Treatment." October 30, 2021. https://studycorgi.com/lou-gehrigs-disease-symptoms-and-treatment/.

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StudyCorgi. 2021. "Lou Gehrig’s Disease, Symptoms and Treatment." October 30, 2021. https://studycorgi.com/lou-gehrigs-disease-symptoms-and-treatment/.

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StudyCorgi. (2021) 'Lou Gehrig’s Disease, Symptoms and Treatment'. 30 October.

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