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.