Diagnosis and Treatment: Lou Gehrig's Disease, ALS

Overview

Lou Gehrig's disease refers to a disorder called amyotrophic lateral sclerosis , or ALS. The official name comes from these Greek words:
In the United States, ALS is often called Lou Gehrig's disease because of New York Yankees' star Lou Gehrig, who was diagnosed with ALS in the 1930s. People in England and Australia call ALS 'Motor Neurone Disease' (MND). The French refer to it as 'Maladie de Charcot', after the French doctor Jean-Martin Charcot, who first wrote about ALS in 1869.
Lou Gehrig's disease damages spinal cord pathways and motor neurons, which are important parts of the body's neuromuscular system. The neuromuscular system enables our bodies to move and is made up of the brain, many nerves, and muscles. Things that we do every day, like breathing, walking, running, lifting stuff, and even reaching for a glass of water, are all controlled by the neuromuscular system.
Here's how the neuromuscular system works: if you want to make a fist, your brain first sends signals through the pathways in your spinal cord to the motor neurons that control your hand muscles. The motor neurons then signal the muscles in your hand to move and make a fist. Every muscle in the body is connected to about 50 to 200 motor neurons!
Over time, Lou Gehrig's disease causes these motor neurons in the brain and spinal cord to shrink and disappear, so that the muscles no longer receive signals to move. As a result, the muscles become smaller and weaker. Over time, the body becomes partially paralyzed, which means certain muscles no longer work. However, someone with ALS, even at an advanced stage, can still see, hear, smell, and feel touch. The nerves that carry feelings of hot, cold, pain, pressure, or even being tickled, are not affected by Lou Gehrig's disease. The parts of the brain that allow us to think, remember, and learn are also not affected by the disease.
According to the ALS Association, most people who develop Lou Gehrig's disease are adults between 40 and 70. Although this disease can strike anyone, it is very uncommon among adults and extremely rare in children. Only two out of every 100,000 people will get Lou Gehrig's disease. Because it is not contagious, you can't catch ALS from someone who has the disease.
Five to 10% of ALS cases in the United States are hereditary, which means the disease runs in certain families. This is called familial ALS. At least 90% of cases are not inherited, which is called sporadic ALS.

Diagnosis
Lou Gehrig's disease doesn't always begin or become worse in the same way. The disease is different for every person who has it. In general, muscle weakness, especially in the arms and legs, is an early symptom for about 60% of people with ALS. Other early signs of the disease are tripping or falling a lot, dropping things, having difficulty speaking, cramping and twitching of the muscles, and uncontrollable periods of laughing or crying. As the disease gets worse over time, eating, swallowing, and even breathing may become difficult.
It may take several months to know for sure that someone has Lou Gehrig's disease. The illness can cause symptoms similar to other diseases that affect nerves and muscles, including Parkinson's disease and stroke. A doctor will examine the patient and do special tests to see if it might be one of those other disorders. (It's like using the process of elimination to figure out the answer to a multiple-choice question on a test.)
One of the tests, an electromyogram, or EMG, can show that muscles are not working because of damaged nerves. Other tests include X-rays, magnetic resonance imaging (MRI), blood, and urine evaluations. Sometimes a muscle or nerve biopsy is needed. A biopsy is when a doctor takes a tiny sample of tissue from the body to study under a microscope. Examining this tissue can help the doctor figure out what's making someone sick.

Treatment
Although there is currently no way to prevent or cure Lou Gehrig's disease, a number of treatments are available to people with the disease. There are medicines that can control symptoms, such as muscle cramping and difficulty swallowing, and help to slow down the symptoms of the disease. Researchers are trying to find new drugs that may help slow down the disease or even cure it.
Physical therapy can help people with ALS cope with muscle loss and breathing problems. Special equipment is also provided when it becomes necessary. For instance, a power wheelchair can enable a paralyzed person with ALS to get around. A machine called a ventilator helps a person with ALS to breathe.
In addition, a nurse or other health assistant may come to the person's home to provide care that the family cannot handle alone. It's normal for family members to feel upset, overwhelmed, and sad if a loved one has ALS. Counseling, as well as support from other family members and friends, can make it easier to deal with the challenges they face.
Supportive for people with Lou Gehrig's Disease
According to the ALS Association, about half of all people with ALS live at least 3 years after they find out they have the disease. Twenty percent, or one in five, live 5 years or more. As many as 10% will survive more than 10 years.
Stephen Hawking has been living with Lou Gehrig's disease for about 40 years - ever since his diagnosis at age 21. He is the most famous long-term survivor of the disease. Born in England, Hawking is a famous physicist who furthered our understanding of the universe. He has authored numerous books, including the bestseller A Brief History of Time. He has made these accomplishments despite being confined to a wheelchair for 2 decades, being able to move only a few fingers, and needing a voice synthesizer and special computer to speak and write.
Hawking, who has a wife and three children, once said, "The prospect of a short life made me want to do more. I realized life was good, and there was a great deal I wanted to do."
Living with Lou Gehrig's disease is physically difficult, but it is reassuring to know that the mind is not affected. People with the disease can think as clearly as ever, are able to maintain relationships with friends and family, and should be treated respectfully and normally. Communication can be difficult because the disease affects the person's breathing and the muscles needed for speech and arm movement. With patience, the families of patients with ALS can learn to communicate effectively with their loved one.
Researchers continue to study ALS as they try to understand why it happens, and how the disease damages the nerves and spinal cord. As they learn more about the disease, researchers can continue to develop new and better treatments.