Exploring amyotrophic lateral sclerosis (ALS) 6: a case study in a 26-year-old

<h3></h3> Amyotrophic Lateral Sclerosis (ALS) is a diverse neurodegenerative disorder affecting motor neurons, with ALS6 specifically linked to FUS gene mutations. This case report underscores the intricate diagnostic challenges posed by ALS6 when orobulbar dysfunction takes a prominent role and younger age of onset. The 26-year-old Indian patient exhibited a six- month history of orobulbar difficulties, such as swallowing issues, food impaction and coughing Clinical examination revealed generalized thinning, intact higher mental functions, temporalis wasting, facial muscle weakness, reduced palatal movements, diminished gag reflex, sternocleidomastoid weakness, and tongue atrophy with fasciculations. Disproportionate wasting in specific muscle groups was observed, accompanied by intercostal muscle fasciculations. Contrary to the orobulbar presentation, the patient reported no visual disturbances, sensory deficits, diurnal variation, or cognitive deficits. A history of traumatic brain injury three years prior, with subsequent craniotomy, had no neurological sequelae until the recent orobulbar symptoms. Genetic testing confirmed the ALS6 diagnosis, emphasizing the importance of considering genetic testing in atypical presentations. This case stresses the significance of including ALS6 in the differential diagnosis of orobulbar-dominant anterior horn diseases, showcasing the diagnostic complexities and advocating for meticulous clinical examination, electromyography, and genetic testing for accurate diagnosis and management. The report contributes valuable insights to the expanding literature on ALS6, highlighting its atypical presentation and the essential diagnostic considerations for clinicians.