Responding to the reader - What is amyotrophic lateral sclerosis?

Material reprinted with the express permission of Research News (Fall 2011 issue), a publication from Alberta Innovates - Health Solutions.

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Alberta Innovates - Health Solutions frequently receives letters requesting information about Alberta research or about various medical conditions. "Responding to the reader" is a Research News feature intended to provide up-to-date information related to readers' questions, with the help of experts in the Alberta research community. Alberta Innovates - Health Solutions cannot provide medical advice, however; please consult your family physician about your specific health concerns.

Most people know Lou Gehrig as an American Major League Baseball player who was inducted into the Baseball Hall of Fame in 1939. However, others associate his name with a neuromuscular disease that causes muscle weakness in voluntary muscles: amyotrophic lateral sclerosis (ALS), a disease also known as Lou Gehrig’s disease. The disease forced Gehrig to retire from baseball in the summer of 1939 and led to his death in 1941. Approximately 2,500 to 3,000 Canadians currently live with ALS. Dr. Wendy Johnston, the medical director of the ALS Clinic at the University of Alberta, tells us more about this disease and current research on ALS.

ALS is a progressive disease that has no known cause or cure. It attacks the nerve cells that control voluntary muscles resulting in symptoms such as slurred speech, muscle weakness in an arm or a leg, difficulty swallowing, and muscle atrophy. Voluntary muscles are those that we can consciously control, such as the ones involved in chewing, swallowing, speaking, and breathing. Patients in later stages of the disease become unable to stand or walk, use their arms and hands, or even communicate. Most ALS patients die of respiratory failure when the muscle weakness spreads to the chest and diaphragm muscles, leaving them unable to breathe. The prognosis for ALS can vary: most patients suffer rapid disability within three to five years of being diagnosed, but some patients have mild to moderate disease progression and can live with the disease 15 years or more.

Currently, there is only one approved drug that directly treats ALS and potentially slows the progression of the disease. However, Dr. Johnston emphasizes that other supportive measures—such as feeding tubes, lung exercises to improve lung volume, and non-invasive ventilation—have a better impact on quality of life. For example, the feeding tube is effective for maintaining weight and nutrition because ALS patients have difficulty swallowing and eating. Similarly, the lung exercises help to relieve symptoms such as shortness of breath, and non-invasive ventilation provides breathing support to improve sleep and prevent fatigue. Although these supportive measures don’t slow the progression of ALS, they help relieve the immediate symptoms and allow ALS patients to better manage and cope with the disease. These measures may also help prolong patients’ lives.

Dr. Johnston founded the ALS clinic at the University of Alberta (U of A) in 2001 to provide supportive care to ALS patients. One major advantage of this multidisciplinary clinic is that all aspects of ALS care—such as diagnostic services, education, treatment, rehabilitation, and research—are handled in one location. The clinic brings together healthcare professionals such as neurologists, respirologists, psychiatrists, nurses, speech language pathologists, physical and occupational therapists, dietitians, and social workers to provide patients with individualized care based on their symptoms or disease progression. For example, patients having difficulty breathing would be seen by a respiratory specialist, and patients having difficulty swallowing would be assessed by the speech language pathologist and dietitian. “Everyone at the clinic brings their own insights into patient care, and we talk as a group about the best treatment plan,” explains Dr. Johnston.

The U of A has a history of providing outstanding clinical care to patients with ALS. Dr. Michael Brooke, Professor Emeritus at the U of A, started the first ALS clinic in 1988. He retired in 1999 but left a legacy of ALS and neuromuscular clinics that continue to conduct research and provide care to ALS patients.

Dr. Johnston and her colleagues collaborate on a number of research studies aimed at improving diagnosis and treatment of ALS: Dr. Sanjay Kalra and Dr. Ming Chan identify biomarkers of ALS for improved diagnosis and investigate whether medical imaging technology can be used to monitor a patient’s response to treatment; Dr. Kelvin Jones studies mouse models and the effects of exercise on ALS; and Dr. Stuart Cleary, the clinic’s research speech language pathologist, is evaluating the interaction between speech, swallowing, and respiratory interventions.

Dr. Johnston’s research focuses on quality of life and end of life issues. Dr. Johnston collaborates with Dr. Harvey Chochinov, a Tier One Canada Research Chair in palliative care at the University of Manitoba who developed the dignity index—a tool used to measure the overall quality of life and dignity in patients with end-stage cancer. Dr. Johnston is the principle investigator on the University of Alberta portion of the study. She is studying whether this dignity index can be validated for use in ALS, end-stage renal disease, chronic obstructive pulmonary disease, and the frail elderly. “The goal is to develop a single-page, easy to use measure to assess those who are facing life-threatening illnesses. We would use the dignity index to identify what the issues are and the best intervention in order to improve end of life care for ALS patients.”

The clinic’s multidisciplinary and collaborative research environment is an important contributing factor in the quality of care patients receive at the clinic. “Patients receive the best of care when they have access to good research and its results—good research that looks at why disease happens and how disease can be prevented or treated. This is the overall goal of our clinical program,” notes Dr. Johnston.