Diagnosis of Spinocerebellar Ataxia in the West Indies

Abstract

Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine neurological care is typically addressed by general practitioners, and genetic diagnosis is not available through regular medical channels. The diagnosis and management of neurodegenerative disorders is especially challenging in this setting.Case Report: We diagnosed a family with spinocerebellar ataxia type 3 (SCA3) in an underdeveloped nation with limited access to genetic medicine and no full-time neurologist.Discussion: Molecular diagnosis of the SCAs can be challenging, even in developed countries. In the Caribbean, genetic testing is generally only available at a small number of academic centers. Diagnosis in this family was ultimately made by utilizing an international, pro bono, research-based collaborative process.Although access to appropriate resources, such as speech, physical, and occupational therapies, is limited on this island because of economic and geographical factors, the provision of a diagnosis appeared to be ultimately beneficial for this family. Identification of affected families highlights the need for access to genetic diagnosis in all communities, and can help direct resources where needed.

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

“…Individual 5 presented with ataxia, cerebellar degeneration, unusual eye movements, and photosensitivity. She had two relatives confirmed to have HD, however, this diagnosis was excluded, as was SCA3 which we previously had diagnosed in a different family in this small population (Yearwood, Rethi, Figueroa, Walker, & Sobering, 2018). Other spinocerebellar ataxias (types, 2, 3, 6, 7, 10, 12, and 17) were also excluded.…”

“…Individual 4 was a 5-year-old female who first came to our atten- (Charles et al, 2017), 2 (Yearwood et al, 2018), 3 (Mitchell et al, 2019), 4, (Kruszka et al, 2017), 5 (Sobering et al, 2017).…”

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

“…A total of 3 unrelated SCA2 families were described in Martinique (French West Indies) in 2 publications by the same group, outlining typical features (ataxia, supranuclear ophthalmoplegia, and hyporeflexia) but also intrafamilial phenotypic heterogeneity . Recently, a large family from Antigua with SCA3 was well documented, including affected individuals who moved to Barbados and Trinidad‐Tobago . Gwinn‐Hardy and colleagues also described an Antiguan SCA3 family of sub‐Saharan African descent, whereas Giunti and colleagues described SCA3 families from Jamaica living in the United Kingdom.…”

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

“…34 However, we were not able to offer the botulinum toxin option to our patient as we do not have the support of a full-time neurologist and the drug is not available in our community. 35,36 Treatment otherwise consists of the usual strategies employed in dystonia. 24…”