Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Sep;15(5-6):453-6.
doi: 10.3109/21678421.2014.903974. Epub 2014 Jul 1.

Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis (ALS)

Sabrina Paganoni  1 , Eric A Macklin, Alexandra Lee, Alyssa Murphy, Judith Chang, Amanda Zipf, Merit Cudkowicz, Nazem Atassi
Affiliations

Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis (ALS)

Sabrina Paganoni et al. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep.

Abstract

The objective of this study was to characterize the diagnostic timelines and their predictors in people with amyotrophic lateral sclerosis (ALS). Patients were identified through ALS billing codes. Time from presenting symptom to first doctor visit, first doctor visit to suspected ALS diagnosis, suspected to confirmed ALS diagnosis, and presenting symptom to confirmed ALS diagnosis (total diagnostic time) were collected. Regression models were used to analyze the predictors of diagnostic delay. Three hundred and four ALS patients were included in the analysis. Median total diagnostic time was 11.5 months. Diagnostic timelines were longer in patients with age > 60 years (p < 0.001), sporadic ALS (p = 0.043), and limb onset (p = 0.010). The presence of fasciculations, slurred speech, and lower extremity weakness when symptoms were first noted were independent predictors of shorter time to ALS diagnosis (p = 0.04, p = 0.02, and p = 0.04, respectively). About half of the patients (52%) received an alternative diagnosis and each patient saw an average of three different physicians before ALS diagnosis was confirmed. In conclusion, diagnostic timelines in ALS are long, and patients see many physicians and receive multiple alternative diagnoses before the diagnosis of ALS is confirmed. Older age, sporadic disease, and limb onset can delay ALS diagnosis.

Keywords: Diagnosis; delay; predictor; timeline.

PubMed Disclaimer

Conflict of interest statement

Declaration of interest: Sabrina Paganoni is funded by an NIH Career Development Award. Eric Macklin serves on Data Monitoring Committees for Lantheus Medical Imaging and Shire Human Genetic Therapies and was an unpaid consultant to Knopp Biosciences. Merit Cudkowicz has provided consulting for Neuraltus, Cytokinetics and Teva. Nazem Atassi receives fellowship grants from the American Academy of Neurology (AAN), Muscular Dystrophy Association (MDA), and the Anne Young Fellowship, has research grants from the Harvard NeuroDiscovery Center and ALS Therapy Alliance (ATA), and provided consulting for Biogen IDEC.

The authors alone are responsible for the content and writing of the paper.

Figures

Figure 1
Figure 1
Diagnostic timelines. Box-and-whiskers plot representing the medians (+), inter-quartile ranges (boxes), and minimum and maximum values (whiskers) of the diagnostic intervals in months. The intervals represented include: time from presenting symptom to first doctor visit, time from first doctor visit to suspected ALS diagnosis, time from suspected ALS diagnosis to confirmed ALS diagnosis, and time from presenting symptom to confirmed ALS diagnosis.
Figure 2
Figure 2
Total diagnostic time by patient sub-group. Total diagnostic time (from presenting symptom to confirmed diagnosis) was longer in patients over the age of 60 years compared to younger patients, in sporadic ALS (SALS) compared to familial ALS (FALS), and in limb compared to bulbar onset. Total diagnostic time was not different between genders. Time intervals are represented in months.
See this image and copyright information in PMC

References

    1. Chio A. ISIS Survey: an international study on the diagnostic process and its implications in amyotrophic lateral sclerosis. J Neurol. 1999;246(Suppl 3):III1–5. - PubMed
    1. Mitchell JD, Callagher P, Gardham J, Mitchell C, Dixon M, Addison-Jones R, et al. Timelines in the diagnostic evaluation of people with suspected amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND) – a 20-year review: Can we do better? Amyotroph Lateral Scler. 2010;11:537–41. - PubMed
    1. Cellura E, Spataro R, Taiello AC, La Bella V. Factors affecting the diagnostic delay in amyotrophic lateral sclerosis. Clin Neurol Neurosurg. 2012;114:550–4. - PubMed
    1. Donaghy C, Dick A, Hardiman O, Patterson V. Timeliness of diagnosis in motor neuron disease: a population based study. Ulster Med J. 2008;77:18–21. - PMC - PubMed
    1. Househam E, Swash M. Diagnostic delay in amyotrophic lateral sclerosis: what scope for improvement? J Neurol Sci. 2000;180:76–81. - PubMed

Publication types