Clinical insights from the diagnosis of spinocerebellar ataxia in young Ghanaians: a case series

Spinocerebellar ataxias (SCAs) are a rare group of inherited neurodegenerative disorders that primarily affect the cerebellum and are characterised by a wide range of progressive symptoms. The true prevalence of spinocerebellar ataxia (SCA) may be significantly underreported due to scarce epidemiological data across the continent. Here, we report two cases of Spinocerebellar Ataxia 3 in young Ghanaians. We aim to contribute to the existing literature on spinocerebellar ataxia (SCA) in sub-Saharan Africa and to highlight the importance of maintaining a high index of suspicion. Case 1 involves a 38-year-old woman with SCA3, diagnosed despite no reported family history of ataxia. She presented with worsening ataxia and dysarthria over six months. Initial workup for other causes was unremarkable, but genetic testing confirmed SCA3. The case underscores the need for high suspicion of SCAs in patients with progressive ataxia, even without family history. Case 2 is a young man with 5 years of progressive ataxia and dysarthria. Of note is a significant maternal family history of progressive ataxia. He resorted to herbal remedies before seeking medical attention. A Spinocerebellar Ataxia panel confirmed MJD/SCA3 with full penetrance. These cases underwent physiotherapy and genetic counselling, while monitoring for complications of SCA3. Even though rare, Spinocerebellar Ataxia (SCA) does occur in Sub-Saharan Africa, to a degree that has probably been underestimated. Further epidemiological studies are needed to determine the true prevalence of SCAs and to better understand their distribution across the region.