Publications by authors named "D J Szmulewicz"

Objective: Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed rehabilitation program compared with 30 weeks of standard care on function, ataxia, health-related quality of life, and balance in individuals with an HCA.

Methods: Individuals with an autosomal dominant or recessive ataxia (aged ≥15 years) were enrolled at 5 sites in Australia.

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Disease-specific oculomotor assessments play a crucial role in the early diagnosis of hereditary cerebellar ataxias. Whereas several studies have reported on quantitative oculomotor and vestibular measurements in Friedreich's Ataxia (FRDA), the value of specific oculomotor paradigms remains unclear. We aimed to address this knowledge gap through a systematic literature review and providing disease-specific recommendations for a tailored set of eye-movement recordings in FRDA.

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In patients with cerebellar ataxia (CA), symptoms related to oculomotor dysfunction significantly affect quality of life (QoL). This study aimed to analyze the literature on patient-related outcome measures (PROMs) assessing QoL impacts of vestibular and cerebellar oculomotor abnormalities in patients with CA to identify the strengths and limitations of existing scales and highlight any areas of unmet need. A systematic review was conducted (Medline, Embase) of English-language original articles reporting on QoL measures in patients with vertigo, dizziness or CA.

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Bilateral vestibulopathy (BVP) is characterized by its heterogeneous and chronic nature with various clinical presentations and multiple etiologies. This current narrative review reflects on the main insights and developments regarding clinical presentation. In addition, it proposes a new diagnostic algorithm, and describes available and potential future therapeutic modalities.

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Friedreich Ataxia (FRDA) is an inherited disorder that affects the cerebellum and other regions of the human nervous system. It causes impaired movement that affects quality and reduces lifespan. Clinical assessment of movement is a key part of diagnosis and assessment of severity.

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