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E. Ulanowski1, R. Moss1, M. Edelen1, M. Danzl1
1Bellarmine University, Physical Therapy, Louisville, United States
Background: Huntington's disease (HD) is a neurodegenerative disorder that typically manifests in those between 30-50 years old. Signs and symptoms can include personality and cognitive changes, unsteady gait, falls, and chorea. The pre-prodromal stage involves a positive genetic test without any signs/symptoms. The presence of deficits and role for early exercise needs to be examined in individuals with pre-prodromal HD.
Purpose: This case report describes the role of a physical therapy intervention framework (BFIT: Balance, Functional mobility, Intensity, Trunk stability) for an individual with pre-prodromal HD.
Methods: The participant was a 30-year old white female who had an expansion greater than 35 CAG repeats on the predictive genetic test for HD 8 years earlier. Despite having the HD gene, she reported being asymptomatic. She was not seeing a neurologist. A board certified neurologic specialist physical therapist with expertise in HD evaluated her and supervised treatment. Subjective reports included feeling clumsy (trips daily), difficulty with motoric multi-tasking, no engagement in formal exercise or physical therapy, independence with functional activities, works part-time, and lives with her husband and toddler. Her past medical history included depression and anxiety. Objective findings included veering with walking with head turns and fatigue with high repetitions of functional activities (e.g., sit to/from stand for 1 minute). She completed a biweekly 8-week program of increasing intensity utilizing the BFIT framework, including functional training through complex motor tasks, vestibular training, dual task training, balance, and core strengthening.
Results: Outcome measures (taken pre, post, and at a 3 month follow up) included the 10 Meter Walk Test (10MWT), Timed Get Up and Go (TUG)-normal, TUG-cognitive, Six Minute Walk Test (6MWT), Functional Gait Assessment (FGA), Mini Balance Evaluation Systems Test (MiniBESTest), and Modified Clinical Test of Sensory Interaction on Balance (CTSIB-M) via VirtuSense Technologies®. Based on available normative values, significant changes were noted in the 10MWT, TUG-normal, and TUG-cognitive with a trend towards significance in the 6MWT. Improvements were noted in the CTSIB-M. There were no deficits and no changes noted in the MiniBESTest and FGA. The participant described an improved attitude and confidence to continue to exercise.
Conclusion(s): This case report demonstrates promising results for early exercise (individually tailored using the BFIT framework) in an individual with pre-prodromal HD. Improvements in endurance, vestibular functioning, gait speed, and dual task were noted. This report serves as a springboard to further explore the role of physical therapy for individuals with pre-prodromal HD. While falls are known to occur early in HD, there are limitations to available balance assessments to assess falls risk and capture change following intervention in the early stages of HD. Further research with robust designs is needed to advance outcome measurement and interventions for those with pre-prodromal HD.
Implications: Though potentially asymptomatic, individuals with pre-prodromal HD could benefit from a physical therapy screening to identify areas to address such as gait speed and balance. Providing services from an early standpoint could better equip these individuals with education and training to face future mobility-related needs as they traverse this neurodegenerative path.
Funding, acknowledgements: There are no funding acknowledgements for this work.
Keywords: Huntington's disease, Pre-Prodromal
Topic: Neurology
Did this work require ethics approval? Yes
Institution: Bellarmine University
Committee: Institutional Review Board
Ethics number: 724
All authors, affiliations and abstracts have been published as submitted.
