To describe the clinical characteristics of a large cohort of ALS patients enrolled in the National ALS Registry to help determine disease variability in the US. 

Amyotrophic lateral sclerosis (ALS) is a progressive disease that causes the degeneration of upper and motor neurons. While death typically occurs within 2–5 years of initial symptoms for most cases, there are wide variations in disease onset, progression, and prognosis.   

Data from ALS patients who completed the Registry’s online clinical survey module during 2010–2015 

were analyzed to determine disease onset, progression, and prognostic characteristics (e.g., site of onset, associated symptoms, time of initial symptom onset to diagnosis, time of diagnosis to hospice referral, pharmacological and non-pharmacological interventions).

Of the 1,758 participants who completed the survey, 60.9% were male, 62.1% were 50-69 years old, and 95.5% identified as white. Approximately 72.0% of all participants reported initial limb weakness onset, followed by bulbar (22.1%), and trunk/global onset (6.1%) of disease. Other symptoms ever experienced included cramps (56.7%), fasciculations (56.3%), and dysarthria (33.0%). The median time between an increase of muscle cramps until diagnosis of ALS was 12 months; however, limb onset patients had cramps longer preceding diagnosis versus patients with bulbar onset. The most frequent interventions used by patients included riluzole (48.3% currently using), wheelchairs/scooters (32.8%), and noninvasive breathing equipment (30.0%). Patients with trunk/global onset were referred to hospice almost four times earlier than other patients.

These data show how ALS symptoms differ widely in a large cohort of patients preceding diagnosis and

reflect variations in disease onset, progression, and prognosis. Better characterization of symptom onset may assist neurologists in diagnosing ALS sooner, which could lead to earlier therapeutic interventions and/or enrollment into clinical trials for patients.