The Role of the Otolaryngologist in Early Recognition of Patients With ALS: A Case Report

Abstract

This case report aims to raise awareness of the possibility of amyotrophic lateral sclerosis (ALS) diagnosis in patients presenting to the Otolaryngology Department. We describe the case of a 66-year-old woman with hoarseness who was evaluated by several physicians and was referred to an ALS specialist only a year after symptom onset. Our case highlights the importance of considering motor neuron etiologies in patients with voice complaints. Early identification and referral to a specialist are critical for accurate diagnosis and prognosis and may be the key to slowing the disease's progression.

Introduction

Dysphonia accounts for 0.98% to 7.6% of medical encounters in the United States.^1,2 Hoarseness is common among the elderly, with estimates ranging from 20% to 29% point prevalence, and among women compared to men (1.2% vs 0.7% in a treatment-seeking population). ³ The most common causes of hoarseness are acute (42.1%) and chronic laryngitis (9.7%), functional vocal disturbances (30%), and benign tumors (10.7-31%). Less frequent etiologies are malignant tumors (2.2-3%), as well as neurogenic disturbances such as vocal fold paresis (2.8-8%), presbyphonia (2%), and psychogenic factors (2-2.2%). ⁴ Neurological conditions such as Parkinson’s disease, myasthenia gravis, multiple sclerosis, dementia, and amyotrophic lateral sclerosis (ALS) can present with altered voice quality. ⁵ In 25% of patients with ALS, speech and swallowing difficulties are the first manifestation. Of these, 64.7% and 6.6% will have their first medical encounter with a primary care physician (PCP) and an otolaryngologist (ORL), respectively.^6,7 Since ALS can present with merely bulbar symptoms and the average survival time after the appearance of symptoms is 2–4 years, it is critical to include it in the differential diagnosis of dysphonia. ⁸ We present a patient who, after a year of multiple health care visits, referring hoarseness as the only complaint, was diagnosed with ALS. This case highlights the role of otolaryngologists in identifying patients who would benefit from a specialist in ALS.

Case Report

A 66-year-old woman with a history of diabetes and hypothyroidism presented with progressive hoarseness and difficulty articulating words. Symptoms worsened after stress and prolonged voice use. Her vocal changes were initially attributed to gastroesophageal reflux and muscle tension dysphonia. Symptoms did not improve with famotidine, omeprazole, or speech therapy. Her voice changes had also been attributed to the coronavirus disease (COVID-19) infection. One year after symptom onset was the initial evaluation at our institution. She presented with mild voice strain and intermittent slurring of words. Dysphagia, odynophagia, and dyspnea were not present. The patient had never smoked and had denied a family history of neurodegenerative diseases. Quality of life surveys reported: a Reflux Severity Index of 24, a Glottal Function Index score of 14, and a Voice Handicap Index of 19, reflecting the burden of the disease. A strobovideolaryngoscopy was notable for supraglottic hyperfunction. Upon further questioning, the patient described difficulties gripping a pen in her right hand in the last three months. A motor neuron disease was suspected, and the patient was referred to neurology. The neurological assessment revealed abnormal cranial findings such as cheek puff weakness, mild mixed flaccid and spastic dysarthria, and bilateral tongue weakness and fasciculations. Reflexes were brisk in all limbs, with mild atrophy of the intrinsic right hand muscles. The nerve conduction study indicated active and chronic denervation in the right lower extremity and milder findings in the right upper extremity and the genioglossus. These findings would satisfy the El Escorial criteria for clinically probable ALS, king’s stage I. An ALS diagnosis was delivered, and the patient will attend the multidisciplinary ALS clinic.

Discussion

ALS is a fatal motor neuron disease with a global incidence of 2 to 3 per 100,000. ⁷ It is characterized by degeneration of the upper and lower motor neurons (UMN and LMN). The most common initial clinical manifestation is a localized weakness that progresses to generalized motor impairment. ALS can be classified according to the predominant symptoms, also called the onset phenotype: 70% of patients present with weakness of the limbs, 25% with bulbar onset, and less than 1% with fasciculations and wasting syndrome. Bulbar involvement describes the deterioration of motor neurons within the corticobulbar area of the brainstem and manifests as dysarthria, dysphagia, or facial weakness. Dysarthria can be due to UMN or LMN degeneration. Spastic dysphonia with strained speech is a sign of UMN dysarthria; Flaccid dysarthria, with weakness of the lingual, facial, and palatal muscles that cause breathy, imprecise hypernasal speech, are signs of LMN dysarthria. A mixed spastic and flaccid dysarthria is indicative of ALS. ⁷ A harsh strained or breathy voice quality; hypo or hypernasality; short phrases; lengthy segment intervals; inappropriate pauses; excessive and equal stress; and low volume are all possible speech characteristics of patients with ALS. ⁹ These clinical signals may suggest a specific cause and should be further studied in patients with dysphonia. ¹⁰

In this case, the symptoms had been attributed to a COVID-19 infection episode. During acute infection, 26.8% of patients with mild to moderate symptoms experience dysphonia, and the long-term effects could be due to damage to the lung or upper airway. ¹¹ Although this could have played a role, it is crucial that other possible etiologies are studied, even in cases of uncertainty. According to Sennfält et al, ⁶ 38.5% of patients with ALS had a bulbar onset phenotype; of those, 64.7% consulted a PCP, 22.8% went to the emergency department, and 6.6% went to the ORL clinic when seeking care for the first time. ⁶ Only 22.8% of initial referrals were to ALS specialists, 14% were misdiagnosed, and of the remaining 63.2%: 66.3% were referred to ORL, 37.2% to neurologists, and 24.4% required inpatient care. These multiple investigation cycles contribute to a late diagnosis. ⁶ From the initial health care visit to the referral to an ALS specialist, there was a delay of 3.1 (0.6–6.2) months; from the initial health care visit until diagnosis, there was a delay of 5.7 (3.4–9.9) months. ⁶ The delay in diagnosis can increase psychological distress, lead to unnecessary treatments, and further impact the patient’s quality of life ¹² . There was a statistically significant clinical progression from initial health care visit to diagnosis within the same group. The proportion in king’s stage 3 or 4 increased from 14% to 56.6%, indicating progression of the disease ⁶ . A high index of suspicion of providers may reduce the time to diagnosis. Early recognition of bulbar involvement in people with ALS is critical for accurate diagnosis and prognosis and may be the key to slowing disease progression. Since in speech subsystems, the deterioration of resonatory and phonatory subsystems occurs before the decline of the articulatory subsystem, ¹³ Tena et al ¹⁴ studied the characteristics of phonation and frequency in patients with ALS. They concluded that the analysis of the one-third octave could be used as an early indicator of hypernasality and voice impairment in speakers with ALS. These findings reinforce the need for speech and language pathologists to document acoustic measures in patients with ALS. It would be helpful to consider the percentage of patients evaluated at an ORL clinic for voice complaints who are finally diagnosed with a motor neuron disease. This case report highlights the importance of awareness of ALS when assessing patients with voice complaints and the impact of a thorough physical exam. Although there is no effective treatment for ALS, diagnostic delays are related to higher health care costs and can prevent timely interaction with a multidisciplinary team and inclusion in therapeutic trials.^12,15

Ethics Approval and Consent to participate

This research was conducted in accordance with the Declaration of Helsinki. The subject provided written informed consent to the reporting of this case. Information revealing the subject’s identity was not included in the manuscript. The patient was identified by number and not by her real name.