[2014] Emilie LaFreniere P.6: ALS

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[2014] Emilie LaFreniere P.6: ALS

OverveiwMore than 12,000 people in the U.S. have been diagnosed with Amyotrophic Lateral Sclerosis, more commonly referred to as “Lou Gehrig’s Disease”, and it is most common among middle-aged, caucasian males. ALS is a disorder in which the human body’s motor neurons rapidly degenerate. This disease attacks the nerve cells, or neurons, that control voluntary muscle action (such as the movement in the arms, legs, and face). ALS is categorized into the group of motor neuron diseases, which result in the gradual degeneration and death of motor neurons.

Preventions

Treatments

Historic Background

ALS

"Amyotrophic Lateral Sclerosis Disorder"

by Emilie LaFreniere

Information

Causes

Diagnosis and Effects

The genetically inherited form of ALS is referred to as Familial Amyotrophic Lateral Sclerosis, or FALS. In these cases the motor neuron disease occurs more than once in a family lineage, meaning that it this form of the disorder has a genetic dominant inheritance. However, this form only accounts for a very small portion of people diagnosed with ALS. Only about 5 to 10% of all ALS patients appear to have a genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.

ALS is one of the most common neuromuscular diseases worldwide. There are many famous cases including the NY Yankees baseball player, Lou Gehrig (hence Lou Gehrig's disease), and English theoretical physicist, cosmologist, author and director of research at the Centre for Theoretical Cosmology within the University of Cambridge, Stephan Hawking.

The diagnosis of a case of ALS is very difficult to obtain. There is not a standard test or procedure to ultimately establish the diagnosis of ALS. Diseases that mimic ALS symptoms are often ruled out with diagnostic tests and clinical examinations, which narrows down the diagnosis of the disease.A person that is affected by a motor neuron disease such as ALS, will find difficulty living a “normal” life. Those who suffer from the disease will need constant care, as they can no longer voluntarily control their muscles. Not long after a confirmed diagnosis, many are assigned caregivers or are admitted to a facility.

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- Patients are offered medications to reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm.- Physical therapy and special equipment can enhance an individual’s independence and safety throughout the course of ALS. - People with ALS who have difficulty speaking may benefit from working with a speech therapist. - Nutritional support is an important part of the care of people with ALS.- When the muscles that assist in breathing weaken, use of nocturnal ventilatory assistance may be used to aid breathing during sleep.-Individuals may eventually consider forms of mechanical ventilation (respirators) in which a machine inflates and deflates the lungs.

As of now, there is no way to prevent ALS. However, in cases of FALS, genetic testing can help determine the cause, and ultimately how to prevent the disease from developing. About 50% of individuals with FALS will have a mutation identified. Those families with FALS where a mutation is not identified probably have FALS caused by a gene or genes that have not yet been discovered. Not having an identified genetic mutation does not eliminate a FALS diagnosis and other family members may still be at risk for developing ALS. If a mutation has been detected, biological family members will be able to test to see if they too have the mutation, which is called predictive testing. If there is no mutation identified, additional family members without diagnosis of ALS will not provide more information. If no one in the family with ALS is available for testing, a test result in an unaffected person cannot be detected.


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