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Oxf Med Case Reports ; 2023(5): omad045, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37260726

RESUMO

Amyotrophic lateral sclerosis (ALS) is a progressive, degenerative neuromuscular condition. The procedure and difficulties involved in the clinical diagnosis of ALS have been the subject of numerous investigations. The understanding of the genetics and the epigenetics of the disease is still at infancy with several missing links. We present a case report of a 73-year-old woman suffering from bulbar onset ALS with a 4-month history of progressive dysphagia and dyspnea. She displayed tongue fasciculations and muscle atrophy. The bilateral palmomental reflexes, snout reflex, Hoffman, Babinski, diminished gag reflex, bilateral clonus and wild mood swings confirmed the neurodegenerative condition of the patient. The diagnosis of ALS can be challenging; therefore, the data presented may be useful to investigate its characteristics of the onset and to improve the understanding of the aspects of differentiation from other neurodegenerative disorders.

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