Spinocerebellar ataxia type 7: A case report

Abstract

Introduction: Spinocerebellar ataxia type 7 is part of a rare group of neurodegenerative diseases, characterized by lesions in the brainstem, cerebellum, spinal cord, and retina, manifesting as motor disturbances associated with signs of pyramidal involvement and amaurosis. The dysfunction is caused by autosomal dominant genetic alterations, with disease severity and the age of symptom onset being directly linked to the patient’s genetic expression. Case Report: We present the case of a 24-year-old woman, previously healthy, who denied smoking, drinking alcohol, or taking any other drugs. She reported that approximately nine months, she had experienced a decline in dexterity for tasks requiring fine motor skills. She also exhibited impaired gait, frequent falls, and difficulties in performing basic activities of daily living (ADLs). On neurological examination, she presented with an ataxic and staggering gait, tremor during movement, dysmetria, dysdiadochokinesia, movement decomposition, dysarthria (scanning speech), dysphagia, dystasia, dysbasia, and nystagmus, all of which are indicative of cerebellar impairment. A genetic panel revealed the presence of 44 cytosine-adenine-guanine nucleotide repeat expansions on allele 2 of the ATXN7 gene, confirming the diagnosis of spinocerebellar ataxia type 7. Conclusion: In this case report, the diagnosis of spinocerebellar ataxia was established through a comprehensive assessment of the patient’s clinical history, neurological examination, imaging studies, and genetic profiling, all of which are essential for reaching a definitive diagnosis. The prognosis for this disease varies due to ongoing research into its pathophysiology. Furthermore, discussions within the scientific community regarding potential cures for this condition continue