Introduction
Amyotrophic lateral sclerosis (ALS), a progressive, neurodegenerative disease, affects the motor neurons in the cerebral cortex, brainstem, and spinal cord, resulting in weakness, spasticity, and the progressive loss of muscular control and function.1 In Europe, the estimated annual incidence of ALS is 2.1–3.8 with a prevalence of 4.1–8.4 per 100 000 person-years.2
Up to 70% of ALS patients experience spinal nerve onset affecting the extremities (extALS).1 By contrast, 25–30% of ALS patients present with impaired speech and/or swallowing, or bulbar nerve onset ALS (buALS).1,3–6 The clinical presentation, disease course, and prognosis in these subtypes differ. ALS patients with no evident family history of motor neuron disease, referred to as “Sporadic ALS”, make up 90–95% of all ALS patients.1,3–6
As yet, no curative treatment for ALS is available. Assisted ventilation is used by a minority of patients. 7 In Finland from 2017 to 2020, the incidence of tracheostomy-assisted ventilation seems to have decreased.8,9 Prognosis remains poor, with an expected 3-year survival of 40% and an 8-year survival of 10%.1,3–6 The progression of symptoms ultimately leads to respiratory failure, the leading cause of death among ALS patients.5 Survival can vary, partly depending on the genotype, from less than 1 year to decades.10 BuALS is associated with higher all-cause mortality, greater co-morbidities, and a lower quality of life.1,2,4
Given the rarity and the lack of clear clinical markers, ALS and buALS specifically represent diagnostic challenges. Since buALS presents with dysarthria and dysphagia,3 patients may be primarily referred to an otorhinolaryngologist (ORL) or a phoniatrician. Furthermore, referral to an ORL, phoniatrician, or a speech-language pathologist (SLP) is often crucial in order to provide recommendations for dietary changes, compensatory maneuvers, and supplemental forms of feeding such as a percutaneous endoscopic gastrostomy (PEG) tube. A videofluoroscopic swallow study (VFSS) and a fiberoptic endoscopic examination of swallowing (FEES) are often employed.
This retrospective study aims to characterize ALS patients treated in the Helsinki metropolitan region during a five-year period (2010–2014). Specifically, we focused on patients with buALS, their presenting symptoms, diagnostic delays, and referrals to specialized care. We analyzed the feasibility of VFSS and FEES in patients with buALS, as well as the number of patients undergoing PEG and tracheostomy.