Bulbar Onset Amyotrophic Lateral Sclerosis in an African American Older Adult

CASE REPORT

An African American male in his early 70s initially presented to his primary care physician (PCP) with mild voice changes. His medical history was relevant for obstructive sleep apnea, benign prostatic hyperplasia, hypertension, and type 2 diabetes mellitus. The patient was the pastor of a large church, and his dysarthria progressively worsened during the next few months until his speech became largely unintelligible, resulting in his inability to lead the church choir in song or deliver a sermon. The patient also reported that he was experiencing dysphagia with solids. These symptoms became life-altering for the patient; he could not carry out his activities of daily living or efficiently perform his job.

The patient concurrently experienced dyspnea and urinary incontinence, initially thought to be attributable to his previously diagnosed obstructive sleep apnea and benign prostatic hyperplasia. Dyspnea was principally brought on with exertion, and the patient noted occasional wheezing. The patient's dyspnea became so concerning that he presented to the emergency department on multiple occasions.

Initially, the patient had significant issues with micturition and often experienced dribbling, straining, and nocturia that clinically correlated to his benign prostatic hyperplasia diagnosis. He took tamsulosin (Flomax) for these symptoms. However, his urinary urgency progressively worsened to urinary incontinence. He took a change of clothes wherever he went, anticipating incontinence. The urinary incontinence became increasingly distressing for the patient. His PCP later determined, after consulting a urology specialist, that these symptoms were not attributable to benign prostatic hyperplasia. Frequent and severe urinary incontinence is not commonly associated with benign prostatic hyperplasia but typically has a neurologic etiology.

The patient's dyspnea, dysarthria, dysphagia, and urinary incontinence were evaluated independently by several subspecialists. The patient received extensive workups, but results were negative for pathologic processes.

Stroke and cerebrovascular accident were initially the principal differential diagnoses. Because the patient's initial chief complaints were voice changes, dysphagia, and dysarthria, all signs of stroke,⁶ he was referred to vascular neurology. However, magnetic resonance imaging and computed tomography (CT) imaging were negative, ruling out a neurovascular cause of the symptoms.

The patient stated that he felt his eyelids drooping while watching television and endorsed worsening of speech symptoms if he spoke for long periods. Given the progressive worsening of muscles with repeated use,⁷ he was assessed for myasthenia gravis. However, serologic testing was negative.

In addition to the rapidly progressive voice changes, the patient frequently complained of dyspnea. Because of the patient's distant history of smoking, lung neoplasm was suspected. Additionally, paraneoplastic syndrome, such as Lambert-Eaton syndrome, could have explained the patient's neuromuscular issues.⁸ However, no lung mass was visualized on CT, the patient had no other signs or symptoms related to lung cancer, and all other pulmonary testing was normal. Lambert-Eaton syndrome would not fully explain all the issues the patient was experiencing.

Congestive heart failure typically presents with dyspnea, often orthopnea and paroxysmal nocturnal dyspnea.⁹ Although the patient reported normal breathing while he was lying flat, he experienced difficulties with obstructive sleep apnea. He had several risk factors for cardiovascular disease, so he was assessed for congestive heart failure and/or myocardial infarction. All cardiovascular examinations were negative.

In March 2021, after approximately 6 months of worsening symptoms, the patient's speech was so severely slurred and dysarthric that he was difficult to understand. He reported choking on his own saliva and experiencing severe dysphagia. A full neurologic examination showed reduced reflexes and bilateral upper extremity fasciculations. Otherwise, his neurologic examination was normal. The patient's PCP, a medical student, and a medical resident pieced together the components of the patient's presentation and specialist workups to arrive at the differential diagnosis of motor neuron disease. He was referred to a motor neurologist for further evaluation.

In April 2021, 7 months after the initial onset of symptoms of dysarthria, the patient was evaluated by a neurologist who specialized in neuromuscular conditions. A thorough examination in the neuromuscular clinic identified fasciculations in the left triceps muscle, left abductor hallucis muscle, and right abductor pollicis brevis muscle without noticed weakness. On ambulation, the patient's gait was slow and wide-based, and he was unable to walk on his toes. Table 1 presents the reflex and muscle strength findings from the examination. Slight drooling and right eye ptosis were also noted. The patient's speech was largely unintelligible with significant spastic dysarthria. The patient could not articulate his words, his voice was weak and nasal sounding, and his speech was slowed.

ALS is largely a clinical diagnosis or a diagnosis of exclusion. Therefore, to confidently diagnose ALS, other disease states must first be ruled out. The clinical suspicion of ALS increased as the patient continued to lose motor function of various muscular groups. The detailed neuromuscular workup, with specific attention paid to subtle upper and lower motor neuron signs, supported the likelihood that the patient had ALS. Considering the negative findings from other investigations and the progressive nature of the patient's symptoms, ALS became the principal differential diagnosis.

No treatments for ALS are curative or can reverse the disease state. However, one pharmaceutical option—riluzole—has been shown to reduce disease progression.¹⁰ Riluzole works as an antagonist against glutamate release in the central nervous system and is one of the only US Food and Drug Administration–approved medications for the management of ALS. The patient was prescribed this therapy and enrolled at the Ochsner ALS Center, a multidisciplinary program that has the Certified Treatment Center of Excellence designation from the ALS Association.¹¹

The patient initially rejected the ALS diagnosis. He had poor trust in the medical system and did not agree with the majority of what his medical providers told him regarding his diagnosis. He relied heavily on his religious background for guidance. As numerous providers pointed to the same diagnosis, he preferred to “pray for a miracle” and “rebuke the diagnosis.” The patient had a strong rapport with his PCP, who represented his community, and he trusted her medical decision-making. Regardless, he asked for a second opinion from a trusted neurosurgeon who had performed a surgery on his son that he described as “a miracle.” The patient felt that going to the Ochsner ALS Center would be an acceptance of the ALS diagnosis and he was extremely hesitant to do so. Consequently, several months elapsed before he presented to the ALS center after his diagnosis. However, once he began the program, the patient reported improvement of his symptoms. The ALS center focuses on multiple aspects of the disease, providing both physical therapy and respiratory therapy, and offers education, nutrition, therapy, support groups, familial assistance, and other interventions. Patients enrolled in the program receive help from speech therapy to assist with vocal and swallowing difficulties—the principal concerns of our patient. His vocal and bladder control and his ambulation improved. The patient learned ways to improve bladder control and received respiratory assistance. He agreed to take riluzole and was compliant with all recommended therapies.

However, 1 year after initial presentation, the patient declined rapidly and died while enrolled in hospice.