Classic manifestations of Duchenne dystrophy in a young female patient: A case report

Leyser, Marcio; Marques, Fernanda Jordão Pinto; Elias, Marco Aurelio C.; Gonsalves, Marcia C. Diniz; Silva, Odilon Soares da; Carvalho, Ricardo Silva; Silva, Cynthia Costa e; Vasconcelos, Marcio Moacyr; Nascimento, Osvaldo J. M.

doi:10.1016/j.ejpn.2012.08.002

Cited by 1 publication

(1 citation statement)

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“…It affects all human races. While the vast majority of DMD patients are male, female could also be affected if the dystrophin gene in both X-chromosomes is mutated or when random X-chromosome inactivation is skewed in a carrier [26–28]. Further, more than 7,000 different mutations have been reported in the dystrophin gene [29].…”

Section: Discussionmentioning

confidence: 99%

Night Activity Reduction is a Signature Physiological Biomarker for Duchenne Muscular Dystrophy Dogs

Hakim

Peters

Feng

et al. 2015

JND

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Background Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease. Dystrophic dogs are excellent models to test novel therapies for DMD. However, the use of the dog model has been hindered by the lack of an effective method to evaluate whole-body mobility. We recently showed that night activity is a good indicator of dog mobility. However, our published method relies on frame-by-frame manual processing of a 12-hour video for each dog. This labor-intensive and time-consuming approach makes it unrealistic to use this assay as a routine outcome measurement. Objective To solve this problem, we developed an automatic video-capturing/imaging processing system. The new system reduces the data analysis time over 1,000 fold and also provides a more detailed activity profile of the dog. Methods Using the new system, we analyzed more than 120 twelve-hour recordings from 12 normal and 22 affected dogs. Results We observed similar activity profiles during repeated recording of the same dog. Throughout the night, normal dogs were in motion 10.4 ± 0.9% of the time while affected dogs were in motion 4.6 ± 0.2% of the time (p < 0.0001). Further, normal dogs made significantly more movements (p < 0.0001) while affected dogs rested significantly longer (p < 0.0001) during the period of recording (from 6 pm to 6 am next day). Importantly, statistical significance persisted irrespective of the coat color, gender and mutation type. Conclusions Our results suggest that night activity reduction is a robust, quantitative physiological biomarker for dystrophic dogs. The new system may be applicable to study mobility in other species.

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Section: Discussionmentioning

confidence: 99%