His Oddly Stiff Walk

A patient's history evokes dread as a physician begins to probe

By John R. Pettinato|Thursday, April 28, 2005

I had to tell the truth. Eyes locked onto mine, probing, searching for honesty, following my every move, the patient asked me again, “So this is a death sentence?”

The walls of my office came closing in around me. My palms began to sweat, and words, so eloquent in my mind, died as they reached my lips. “Yes” was all I could manage.

His lips trembled with the effort. “How long, then?” he asked.

Before I spoke, I measured my thoughts carefully. “It varies from person to person, but three to five years would be a reasonable estimate.”

I paused. Jerry offered no reply; none was expected. Not wanting to risk sounding trite, I said no more and let the brief exchange come to an end.

There are no guides to help physicians through difficult times with patients. For me as a neurologist, no conversation is more agonizing than the one I had with Jerry on that beautiful summer day.

The 47-year-old patient said he had first noticed muscle twitching about a year before his visit with me. Infrequent at first, these spasms, as he called them, were constant and most evident in his arms and legs. He didn’t have cramps, felt his muscle bulk was unchanged, and thought his overall strength was normal.

Although Jerry was still active as an amateur geologist, fatigue was sapping his zest for life. Simple things like buttoning a shirt or holding a cup of coffee were getting difficult. Jerry said his legs weren’t moving normally, making a short walk tiring and at times frustrating.

Otherwise, Jerry’s health was good. He took no medications, and his family had no history of neurological disease. The only other pertinent note in his medical history was a somewhat nasal vocal quality that he attributed to seasonal allergies.

I began Jerry’s exam with a sense of dread. By taking a good history, most physicians know what to expect before the exam begins, and as I examined Jerry, my mind was whirling with possibilities, most bad, some much worse, and all likely to be neuromuscular in one way or another.

Jerry’s memory, vision, hearing, swallowing, and sensation were normal. His speech was not slurred, but it was unusually nasal—a quality I knew was not due to allergies. I noticed a near-constant twitching of his tongue, shoulders, arms, and thighs. His strength was fine, but several of the muscles in his hands and feet were atrophied, or smaller than expected for someone his age and build. The most striking aspect of Jerry’s examination was his gait. When he walked, his legs moved in a stiff, robotic fashion. He looked as if he was walking on stilts.

As a specialist, I am frequently asked for a second opinion, and that’s what Jerry was asking of me. He’d already been poked, prodded, and unceremoniously handed a diagnosis, one from which there was no escape. Now he looked to me for confirmation. Jerry’s physicians had told him he had amyotrophic lateral sclerosis—ALS— or Lou Gehrig’s disease. I told him I thought they were correct.

The signals governing voluntary movement originate in neurons in the motor cortex of the brain. They extend down into neurons in the spine and then pass out to individual muscles. In ALS, motor neurons in both the brain and the spine degenerate and eventually stop sending messages to the muscles, which leads to muscle atrophy and twitching. ALS affects only the motor neurons, so patients retain sensations governed by other neurons. They still have speech (although it may be slurred or nasal) and memory, as well as smell, touch, taste, hearing, and sight. As the disease progresses, the ability to move voluntarily is lost; ultimately the muscles of the diaphragm are affected, and breathing without assistance becomes impossible. Most patients die three to five years after the first symptoms begin.

Why motor neurons die in ALS is not known. One leading possibility focuses on the brain chemical glutamate. Several studies have demonstrated excess glutamate in the serum and spinal fluid of patients with ALS, and prolonged exposure to glutamate is toxic to motor neurons. A second theory postulates damage to motor neurons from the unchecked formation of free radicals, metabolic by-products that can harm cells. Finally, several lines of research suggest that an aggressive autoimmune response may be the culprit. Ultimately, the cause may be a combination of all three theories, or something entirely unexpected.

The disease, known informally as Lou Gehrig’s disease after it claimed the life of the Yankees great in 1941, most commonly occurs after age 40. Approximately 30,000 people in the United States have ALS, and about 5,000 new cases are diagnosed each year. The first symptoms include muscle stiffness, weakness, and cramping, slurred or nasal speech, and trouble chewing or swallowing. Often patients notice awkwardness when running or walking and difficulty with buttoning a shirt or turning a key in a lock. As the weakness advances, atrophy and twitching become more evident, and eventually speaking, swallowing, breathing, and walking become profoundly affected.

Diagnosis requires clinical acumen—recognizing the signs and symptoms of upper and lower motor neuron disease—as well as laboratory work and the neuroimaging of the brain and spinal cord. The results of these tests are usually normal and help eliminate other disorders such as myopathy (muscle-fiber disease) or myelopathy (spinal-cord disease), multiple sclerosis, and post-polio syndrome. In some cases infectious diseases such as Lyme disease may mimic the symptoms of ALS. Electromyography, a technique that records electrical activity in muscles, is usually performed, and certain EMG findings can support a diagnosis of ALS.

There is no cure for ALS. The primary treatment is a drug called riluzole, which is thought to work by decreasing the release of glutamate and reducing damage to motor neurons. In clinical studies riluzole prolonged patient survival by several months and extended the time before patients required a respirator. In addition to riluzole, there are medications for fatigue, muscle cramps, pain, insomnia, depression, and excess salivation. Physicians, physical and speech therapists, social workers, and both home-care and hospice nurses are often involved, as well as counselors to help family members cope.

Near the end of the appointment I explained to Jerry what I could about ALS. I then felt it was important to let him guide the rest of the conversation. No matter how uncomfortable the silence might be, I quelled the urge to keep speaking.

After a few moments Jerry asked me several thoughtful questions about experimental treatments, alternative therapies, and end-of-life care. He told me he was undecided about how to proceed, but he took a prescription for riluzole anyway. “Better safe than sorry,” he said.

When it comes to talking about death and dying with patients, there are no manuals, and for the most part, very little in the way of training. Physicians are left to develop the necessary skills through experience and whatever innate abilities they bring to the art of medicine. Most doctors need to discuss these issues with patients and their families only occasionally. Neurologists, however, must do so with regularity—in the office, the emergency room, or the intensive care unit, where brain death is an all-too-frequent topic.

For the most part, patients and families react with dignity when we discuss death and dying. But I’ve seen the whole range of emotions. Some patients and their relatives feel shock, anger, and rage. Just as people differ, so do their responses to a terminal diagnosis. It’s hard to know what to expect, but if I knew, it wouldn’t matter: In my experience, delivering bad news never gets easier. Each time, the grief I feel gets a little harder to handle.

John R. Pettinato is a neurologist and osteopath in Concord, New Hampshire. The cases described in Vital Signs are true stories, but the authors have changed some details about the patients to protect their privacy.

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