Abstract

BOMBON CHICO, José Enrique et al. Beyond Parkinson's: ALS with non-Guam extrapyramidal phenotype, a progressive clinical challenge. Vive Rev. Salud [online]. 2025, vol.8, n.24, pp.1223-1234.  Epub Sep 02, 2025. ISSN 2664-3243.  https://doi.org/10.33996/revistavive.v8i24.445.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper and lower motor neurons. While its conventional manifestation is pyramidal in nature, atypical extrapyramidal phenotypes exist that broaden its clinical scope and challenge established diagnostic parameters. We present the case of a 64-year-old female patient initially diagnosed with parkinsonian disorder, with physical examination findings consistent with rigidity, bradykinesia, dystonic postures, and tongue fasciculations, all unresponsive to levodopa treatment. Electromyographic evaluations revealed both active and chronic denervation, while brain magnetic resonance imaging indicated generalized cortical atrophy and morphological features consistent with the "hummingbird sign" and "morning glory sign," suggesting involvement of the midbrain and pons without distinctive markers of atypical parkinsonism. The presence of signs in both upper and lower motor neurons, along with extrapyramidal symptoms, supported the diagnosis of extrapyramidal ALS in Guam. Treatment included riluzole, biperiden, and a multidisciplinary rehabilitation approach, with the goal of maintaining function and improving quality of life. This case underscores the need for a holistic clinical methodology, in which the integration of clinical findings, electromyographic data, and neuroimaging is crucial for identifying non-traditional manifestations of ALS. Recognizing these phenotypes is fundamental for refining diagnostic criteria and optimizing therapeutic strategies in a disease whose neurodegenerative spectrum continues to evolve.

Keywords : Amyotrophic lateral sclerosis; Parkinsonian disorders; Guam; Motor neuron disease.

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