Misdiagnosis of Surgical Conditions in ALS Patients: Analysis of a single-center experience and review of the literature

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Introduction: In amyotrophic lateral sclerosis (ALS) late or incorrect diagnosis significantly reduces the therapeutic window, while also increasing the risk of inappropriate interventions, with a negative impact on disease progression rate.

Objectives: We aim to identify and characterize the clinical profile of ALS patients followed in our center who underwent surgeries due misdiagnosis, and to review the literature.

Methods: We conducted a prospective observational study of patients newly diagnosed with ALS at our center between 2021 and 2024. Patients were categorized into two groups: those who underwent surgical intervention (Surgery Group, n=17) and those who did not (non-Surgery Group, n=284). Variables analyzed included demographic characteristics, onset region, diagnostic delay, baseline disease progression rate (ΔFS), the first specialist consulted, upper motor neuron (UMN)/lower motor neuron (LMN) predominance, and presence of fasciculations at onset. English medical literature was reviewed.

Results: Of 301 ALS patients, 17 (5.6%) underwent surgery due to initial symptoms. These patients had a significantly longer diagnostic delay (median 14.95 vs. 8.99 months, p=0.010) and all had spinal-onset ALS (p=0.014). No significant differences were found in sex (p=0.354), progression rate (p=0.453), UMN/LMN predominance (p=0.708), or fasciculations at onset (p=0.129).

Conclusion: Surgical misdiagnosis in ALS, particularly in spinal-onset cases, remains a clinical concern. Surgeries may delay diagnosis and bypass early neurological assessment. We advocate for increased ALS awareness among non-neurologists and emphasize the necessity of neurological evaluation prior to elective spinal surgery in patients exhibiting progressive motor symptoms.