Cuba's Center for Research and Rehabilitation of Hereditary Ataxias (Cirah) is advancing valuable research projects aimed at unraveling the complexities of this condition.
Throughout the year, experts in the eastern province of Holguín have pursued a continuous scientific agenda aimed at finding effective therapies to combat this disabling disease.
Dr. Jacqueline Medrano, Director of Cirah, noted that these projects rely heavily on international collaboration and involve the active participation of the University of Holguín.
"Some provide tools, while others offer new biomarkers to monitor the disease from both a clinical and molecular perspective," Medrano emphasized, as cited by the daily Granma.
Medical sources explain that ataxia refers to the loss of movement coordination. Specifically, SCA2 is a severe, multisystemic hereditary disorder with a progressive and ultimately fatal course. Symptom onset typically occurs around the age of 30, leading to severe disability within a span of 10 years.
As of 2024, Cuba diagnosed approximately 75 new mutation carriers annually, while 25 patients succumbed to the disease each year.
At the time, the Caribbean nation reported 2,400 individuals living with the condition, alongside 10,000 asymptomatic family members across 200 affected families.
Regarding clinical manifestations, specialists note an ataxic gait and speech disorders in 100 percent of patients.
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