8 research outputs found
A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation
Highlights • We compared MRI and neuropsychological test data in twins discordant for VCP mutation. • Affected twin revealed rapid cognitive decline in a span of 1 year. • FTD related cognitive features may precede behavioral changes in VCP disease. • Cognitive-behavioral impairment may be missed on routine neurological exam and MMSE. • Need for a dedicated screening measure to recognize the neurological impairment. ARTICLE IN PRESS Please cite this article in press as: Abhilasha Surampalli, Brian T. Gold, Charles Smith, Rudy J. Abstract Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin brothers aged 56 years from a family with the p.R155C VCP gene mutation. The affected twin presented with a 10 year history of progressive proximal muscle weakness, difficulty swallowing, gastroesophageal reflux, fecal incontinence, and peripheral neuropathy. Comprehensive neuropsychological testing revealed rapid cognitive decline in the absence of any behavioral changes in a span of 1 year. This case illustrates that frontotemporal dementia related cognitive impairment may precede behavioral changes in VCP disease as compared with predominance of behavioral impairment reported in previous studies. Our findings suggest that there is a need to establish VCP disease specific tools and normative rates of decline to detect pre-clinical cognitive impairment among affected individuals
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Safety and effectiveness of resistance exercise training in a pilot study of patients with late onset Pompe disease
Pompe Disease is a rare inherited disorder associated with muscle weakness and respiratory insufficiency which can affect all ages, ethnicities, and gender. It is caused by the accumulation of glycogen primarily in cardiac and skeletal muscle. There are two forms of the disease, classic infantile form and juvenile/adult form. The purpose of this study is to evaluate the effectiveness of the supervised resistance training program on muscle strength, functional capacity and body composition in patients with late onset Pompe disease. The study includes 10 patients over a 32 week study of increased resistance exercise 3 times a week in a gym with a personal trainer. The patients also undertook respiratory muscle exercise training daily with increasing resistance
every 2 months. Each patient served as their own control
(Weeks 1 - 8 baseline period) and subsequently physical strength, stamina and respiratory function was tested with the Biodex and hand held dynamometers, 6 minute walk test (6MWT), maximum/minimum inspiratory pressure (MIP/MEP), SF-36 questionnaire, muscle volume and texture change using MRI, and blood and
urine collections of tetrasaccharide. Throughout the study, we found that there was an overall improvement in the patient’s muscle strength by Biodex dynamometry, MRC scores and 6MWT. For example, knee and elbow extension torque improved by a mean of 21.6% and a 41.6% respectively. The 6MWT showed an average improvement of 6.58%, and total MRC scores showed an
improvement of 2.1% from initial to final visit. There was a marked improvement in the respiratory parameters in the majority of patients the MIP showed an increase of 25% while MEP increased S84-S85 Abstracts / Molecular Genetics and Metabolism 126 (2019) S17–S156
by 10%. Overall, patients also had an improved sense of well being with very few adverse side effects
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Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Pompe disease is a progressive myopathy resulting from deficiency in lysosomal enzyme acid α-glucosidase (GAA), which leads to glycogen accumulation in lysosomes primarily in skeletal and cardiac muscle. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA works well in alleviating the cardiomyopathy; however, many patients continue to have progressive muscle weakness. The purpose of this study was to evaluate the effectiveness of a respiratory training combined with 24-week supervised resistance training program on muscle strength (measured by Biodex)), and respiratory function including maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) in subjects with late onset Pompe disease receiving ERT. Ten subjects participated in a 24-week resistance exercise program, three times per week, in addition to respiratory muscle exercise training six days per week. Overall, at the end of the resistance training program, as measured by Biodex dynamometry, the leg extensor strength improved by 10.5 ± 3.2Nm. (2O (p = 0.03) and the MEP by 6.4 ± 4.4 (p = 0.16). The exercise training significantly improved the trajectories of MIP and 6 MWT outcomes but not FVC when compared with the natural history data available in 6 individuals. These pilot results indicate that resistance training combined with respiratory training and ERT had a positive effect on muscular strength, functional capacity, and respiratory function in patients with late-onset Pompe disease and might be considered as a potential adjunct therapy in this population
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A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.
Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin brothers aged 56 years from a family with the p.R155C VCP gene mutation. The affected twin presented with a 10 year history of progressive proximal muscle weakness, difficulty swallowing, gastroesophageal reflux, fecal incontinence, and peripheral neuropathy. Comprehensive neuropsychological testing revealed rapid cognitive decline in the absence of any behavioral changes in a span of 1 year. This case illustrates that frontotemporal dementia related cognitive impairment may precede behavioral changes in VCP disease as compared with predominance of behavioral impairment reported in previous studies. Our findings suggest that there is a need to establish VCP disease specific tools and normative rates of decline to detect pre-clinical cognitive impairment among affected individuals