Functional and motor assessment of the juvenile Huntington’s disease: case report

Abstract

Introduction: Huntington’s disease (HD) is a rare and autosomal dominant neurodegenerative disorder with motor, cognitive, and behavioral impairment. The onset of symptoms at an earlier age, under the age of 20, characterizes the juvenile form of HD. Monitoring the evolution of the disease is important and allows to determine the functional limitations according to the progression of each case. Objective: To report a juvenile Huntington’s disease case and its genotype-phenotype correlation. Methods: It was used the Unified Huntington’s Disease Rating Scale (UHDRS) scale, which was validated in Portuguese (Brazil). The scale was applied by a qualified professional, using the following sections: Functional Status Assessment (FAS), Total Functional Capacity Scale (TFC), and Independence Scale (IS). Results: The individual is male and presented the onset of motor symptoms at the age of 18. In 2019, the patiental ready experienced the disease for 12 years with a diagnosis of heterozygous alleles with 19 and 53 CAG repeats. The evaluations performed with the UHDRS scale associated with the functional and motor evaluation obtained the scores: UHDRS FAS = 18 points, UHDRS TFC = 12, UHDRS IS = 90% and UHDRS TMS = 57 points. Conclusions: Due to the clinical variability associated with the juvenile form, the patient should have personalized treatment, consistent with the motor, functional and behavioral impairment presented. The UHDRS is the scale most indicated to assess individuals affected by HD due to the high degree of consistency and clinical reliability.