Progressive symptoms with family ties

Ms. F first presented to our family medicine clinic in October 2002 because of a change in insurance coverage. She was 65 years old at the time and had been widowed for five years. Although she lived alone, she had strong family support nearby. Initially, I treated her for routine age-related health concerns, including high BP; administered appropriate screening tests; and offered en-couragement. After some gentle persuasion, Ms. F even gave up her 15-year habit of chewing tobacco.

1. Troubled by hoarseness

In the fall of 2004, following an almost two-year hiatus, Ms. F returned to our clinic concerned about hoarseness, which began shortly after a recent upper respiratory infection. She denied any cough, reflux, or neurologic symptoms. In my notes for her visit that day, I documented an unremarkable physical exam, the only exception being “slow-to-respond extraocular movements.” I initially didn't make much of that finding, but deep in my mind, I wondered what was causing this problem.

I referred Ms. F to the ENT department. There, the faculty performed a vocal-cord assessment with fiberoptic laryngoscopy and recommended a proton-pump inhibitor (PPI) as initial therapy for her voice dysfunction. Shortly thereafter, Ms. F experienced partial relief of her symptoms.

2. And then dysphagia

Six months later, when Ms. F reported some mild solid-food dysphagia, I referred her to Gastroenterology. Another PPI was tried, with only slight relief of her GI symptoms. As her hoarseness persisted and her dysphagia became more troubling, I referred her to Neurology. The neurologist admitted Ms. F to the hospital for a diagnostic workup, but he was unable to home in on a definitive diagnosis.

In July 2005, after her brief hospitalization, an electromyogram (EMG) of Ms. F's lower extremities was consistent with an upper motor-neuron disease, but again, no firm diagnosis was made. MRI and CT of the brain were unrevealing.

3. At long last, a diagnosis

In September 2005, a repeat ENT evaluation was undertaken. The combination of her neurologic symptoms (hoarse voice and dysphagia, in addition to persistent symptoms after a trial of two different PPIs) led the ENT physician to conclude that Ms. F's vocal-cord dysfunction was of neurologic origin.

Finally, the patient admitted to me that both her brothers had suffered from Lou Gehrig's disease, or amyotrophic lateral sclerosis (ALS), and that she was concerned that she, too, was at risk for this disorder. In December 2005, the Neurology service repeated the EMG and confirmed the diagnosis of ALS. Of note, 10%-15% of ALS cases are familial, and a subset of these appears to be inherited as an autosomal dominant trait.

ALS is a rapidly progressive, invariably fatal neuromuscular disease. Diagnosis is usually made on clinical grounds (Tables 1 and 2). Both upper and lower motor neurons are generally affected, leading to muscle atrophy and fasciculations. The clinical picture depends on the area of the nervous system that is damaged. ALS begins with equal frequency in upper and lower limbs (30%-40% each). About 20%-25% of the time, ALS manifests as bulbar symptoms, most typically speech problems, such as slurring, hoarseness, or decreased vocal volume.

As the disease worsens, muscle atrophy and spasticity ensue, leading to gait disturbance, loss of manual dexterity, muscle pain, and cramps. Patients with bulbar ALS develop swallowing problems with excessive salivation.

The incidence of ALS in the United States is one to two cases per 100,000 population. Between 25,000 and 30,000 Americans may currently have the disorder. Most patients die within five years of diagnosis, usually due to respiratory failure, but about 10%-15% survive at least 10 years. The prognosis is worse for those with the bulbar form of ALS, like Ms. F.

4. Inevitable decline

I treated Ms. F for the following 16 months while she slowly deteriorated. Of particular interest to me was how she demonstrated her ability to understand by responding to my questions and posing her own questions in brief written phrases until four months before her death. Quinine and clonazepam as needed relieved her leg cramps. I treated her excessive drooling initially with amitriptyline, later adding sublingual 1% ophthalmic atropine solution twice daily.

At first, enteral supplementation addressed her involuntary weight loss; eventually, I referred her for a percutaneous endoscopic gastrostomy tube to supply much-needed nutrition. As Ms. F's gait became more unsteady, a cane and then a motorized wheelchair were prescribed. A home visit helped the family adjust Ms. F's living space per my safety recommendations. When her loving family could no longer support Ms. F at home, she was transferred to a local nursing home where I made rounds and followed her condition.

In the end, Ms. F's eldest daughter expressed profound gratitude for my help in uncovering the underlying cause of her mother's initial voice dysfunction and seeing her through to its unfortunate conclusion. And I was thankful for the opportunity to learn from Ms. F how to bravely face a certainly difficult journey with dignity and composure. 

Dr. Grief is assistant professor of clinical family medicine in the Department of Family Medicine at the University of Illinois at Chicago.

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