Abstract

Huntington's disease (HD) is an inherited, rare neurodegenerative disorder caused by repeated mutations in the huntingtin gene. In Brazil, there are estimated to be 13,000 to 19,000 carriers. A literature review highlighted specific challenges in Brazil, including the absence of curative treatments, the demand for a specialized and sensitive approach for HD patients in the Unified Health System (SUS), and the scarcity of epidemiological studies. The 2014 National Policy for Comprehensive Care of People with Rare Diseases (PNAIDR) endeavors to provide access to diagnosis, treatment, rehabilitation, and palliative care for individuals with HD. However, meeting these patients' specific needs poses significant challenges. Effective implementation of strategies to improve early diagnosis, patient support, and quality of life necessitates close collaboration between health professionals, researchers, and policymakers.

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