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Huntington's disease-like disorders in Latin America and the Caribbean
Ruth H Walker1, Emilia M Gatto2, M Leonor Bustamante3
1Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Mount Sinai School of Medicine, New York, NY, USA.
Insights
Rare genetic disorders causing Huntington's disease-like symptoms are present in Latin America and the Caribbean. Identifying these conditions is crucial for accurate diagnosis and care, especially for HD-like 2 in populations with African ancestry.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Choreic phenotype can stem from diverse genetic causes.
- Huntington's disease (HD) testing expansion reveals other rare genetic disorders with HD-like symptoms in resource-limited regions.
- Documenting these conditions is vital for appropriate patient care.
Purpose of the Study:
- To investigate the prevalence and diagnostic availability of non-Huntington's disease genetic choreas in Latin America and the Caribbean.
- To highlight the importance of recognizing these rare disorders for clinical management.
Main Methods:
- Literature review of genetic choreic disorders.
- Consultation with movement disorder specialists in Latin America and the Caribbean.
- Analysis of molecular diagnostic availability for HD and other choreic conditions.
Main Results:
- Non-Huntington's disease genetic choreas exist in Latin America and the Caribbean.
- HD-like 2 is notably prevalent in populations with African ancestry.
- Incidence of other disorders correlates with ethnic background and settlement patterns.
Conclusions:
- Rare genetic choreas are present in Latin America and the Caribbean, requiring recognition beyond Huntington's disease.
- Improved genetic resources and awareness will lead to increased identification of affected individuals.
- Early identification enables access to education, support, and potential molecular therapies.
Abstract:
Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors' personal experiences from the regions. While rare, patients affected by non-HD genetic choreas are evidently present in Latin America and the Caribbean. HD-like 2 is particularly prevalent in countries where the population has African ancestry. The incidence of other conditions is likely determined by other variations in ethnic background and settlement patterns. As genetic resources and awareness of these disorders improve, more patients are likely to be identified, and have the potential to benefit from education, support, and ultimately molecular therapies.
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