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J Clin Neurosci. 2019 Apr 22. pii: S0967-5868(18)31910-6. doi: 10.1016/j.jocn.2019.04.009. [Epub ahead of print]

Probing the multifactorial source of hand dysfunction in Friedreich ataxia.

Author information

1
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia. Electronic address: louise.corben@vcgs.org.au.
2
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
3
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia.
4
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia; Department of Physiotherapy, Monash Health, Warrigal Road, Cheltenham, Victoria 3192, Australia.
5
Department of Occupational Therapy, Monash Health, Clayton Road, Clayton, Victoria 3168, Australia.
6
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia.

Abstract

Friedreich ataxia (FRDA) has a significant effect on hand function which in turn, may compromise independence and quality of life. This study sought to identify the extent of muscle weakness, spasticity and changes in joint range in the hands of individuals with FRDA. We used the Modified Tardieu Scale (MTS), testing of muscle strength and goniometry to examine hand function in 19 individuals with FRDA. Relationships between clinical measures of disease severity, functional independence and measures of hand function were also explored. We found evidence for both upper and lower motor neuron impairment in this population. Thirteen (68.0%) participants had spasticity in the dominant wrist and finger flexors, and seven (36.8%) had contracture in at least one joint of either hand. Sixteen (84.3%) participants demonstrated weakness in the intrinsic musculature of the hands and the majority demonstrated some degree of hyperextension at the metacarpophalangeal joints of either hand. Significant correlations were found between functional independence capacity and clinical parameters, and components of spasticity and weakness in both the dominant and non-dominant hands. Moreover, spasticity and weakness in the dominant hand were shown to be significant predictors of reduced functional independence capacity. This study highlights for the first time the incidence of upper limb spasticity which, in combination with weakness and contracture, suggests a multifactorial source of hand dysfunction in people with FRDA.

KEYWORDS:

Cerebellum; Friedreich ataxia; Motor control; Neuropathy; Spasticity

PMID:
31023572
DOI:
10.1016/j.jocn.2019.04.009

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