Submitted by Benn E. Smith, MD, News Science Editorial Board
Edited by Leigh Maria K. Ramos-Platt, MD, News Science Editorial Board
Ishizaki M, et al. Female dystrophinopathy: Review of the current literature
. Neuromuscular Disorders
. 2018 Jul;28(7):572-581. doi: 10.1016/j.nmd.2018.04.005.
Making mention that the majority of journal articles are focused on male patients with dystrophinopathy, Ishizaki and colleagues review the manifestations in female carriers. The effect of dystrophin abnormalities in female carriers spans the clinical spectrum. Ishizaki pulled together an impressive compilation of data from the literature solely devoted to female dystrophinopathy including articles focused on epidemiology, clinical symptoms, cardiomyopathy, burdens on parents or caregivers, pregnancy or delivery, and prognosis.
Those who care for muscular dystrophy patients will find this a valuable resource as they continue to care for not only the more common population of boys and young men with Duchenne muscular dystrophy but also for their sisters, mothers, and other female relatives. Reviewing 1,002 papers on this subject, they collect and present data on 93 manifesting patients, emphasizing that this remains an area for further research.