by José Luis Cárdenas Tomažič 

Adapted from the Spanish column originally published in El Economista on November 13th, 2023 (La Enfermedad de Huntington: Una Enfermedad Rara)

Today marks International Huntington’s Disease Day, a rare condition (with a combined prevalence of 4.88 per 100,000 inhabitants) that affects the nervous system and causes problems with movement, cognition, and behavior. It is a hereditary disease, meaning it is passed from parents to children through a mutated gene. Huntington’s disease is both incurable and progressive, which means that symptoms worsen over time and can become severely disabling.

Diagnosing Huntington’s disease can be challenging, as symptoms typically appear between the ages of 30 and 50, although they may vary widely from person to person. Some individuals may experience motor symptoms, such as involuntary movements or difficulty walking, speaking, or swallowing.

Others may present cognitive symptoms, including problems with memory, reasoning, or concentration. Psychiatric symptoms may also occur, such as depression, anxiety, irritability, or personality changes.

Diagnosis is confirmed through a genetic test that detects the presence or absence of the mutation responsible for the disease. However, this test cannot predict when symptoms will begin, nor their severity or progression. In addition, the test raises important ethical, psychological, and social considerations, as it may influence reproductive, professional, or personal decisions. For this reason, it is essential that individuals undergoing testing receive appropriate genetic counseling both before and after the procedure.

Treatment for Huntington’s disease is symptomatic—that is, it aims to alleviate symptoms rather than cure the disease. There are medications that can help manage chorea, the most characteristic involuntary movement associated with the disease, as well as other motor, cognitive, and psychiatric symptoms. Pharmacological treatment should be complemented by non-pharmacological interventions, such as physical therapy, occupational therapy, speech therapy, psychotherapy, and social support.

The quality of life of patients with Huntington’s disease and their families is significantly affected by the physical, mental, emotional, social, and economic impact of the condition. Patients may experience a progressive loss of autonomy, self-esteem, communication abilities, and social relationships. Families and caregivers may face stress, anxiety, guilt, isolation, stigma, and caregiver burden. Therefore, it is essential that patients and their families receive comprehensive, multidisciplinary, and personalized care that addresses not only medical aspects but also psychological, educational, legal, and social dimensions.

Medical advances and access to therapies for Huntington’s disease remain limited, yet there are reasons for hope. Scientific research is exploring new strategies to prevent, delay, or reverse the disease, including gene therapy, cell therapy, modification of mutant gene expression, and the development of new pharmacological treatments. However, these approaches are still in experimental stages and require further studies and clinical trials to demonstrate their safety and efficacy.

Access to therapies for Huntington’s disease depends on several factors, including availability, cost, coverage, equity, and the quality of healthcare services. Significant disparities exist across countries and regions in terms of access to care and treatment, leading to inequalities and injustices for patients and their families. Health systems that have achieved better outcomes typically feature specialized centers, collaborative networks, standardized protocols, patient registries, training programs, research support, and strong engagement with patient associations. Among these, the work of the International Huntington Association stands out.

While progress has been made in raising awareness of rare diseases, including Huntington’s disease, significant challenges remain worldwide. Therefore, it is crucial for health systems to become increasingly prepared to understand and address rare conditions such as Huntington’s disease, with the ultimate goal of improving the quality of life of patients, their families, and caregivers.