On the basis of the cases registered in the Outpatient Clinic for Muscular Diseases, Medical Academy in Warsaw including patients with progressive muscular dystrophy, and after an analysis of follow-up data the epidemiological indices and mutation indices were estimated in the population of Warsaw, Province of Warsaw and Province of Radom for the years 1960-1976. The calculated indices of incidence and prevalence of dystrophy and mutation were at the upper range of values reported in world literature. They were, however higher than those estimated in previous years in the same regions by Prot. The calculated index of natural abortions in mothers of patients with Duchenne's dystrophy was slightly higher than in the control group of women. Follow-up investigations show that the genetic counselling in this disease was insufficient in that time period.
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BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
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January 2025
Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA; Department of Neurology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:
Cardiol Young
January 2025
Loma Linda Children's Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA.
Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.
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December 2024
Medical Strategic Affairs, Torrent Pharmaceuticals Ltd., Ahmedabad, IND.
Introduction: Elevated central aortic pressure, cardiac output and peripheral vascular resistance contribute to high morbidity in relation to end organ dysfunction in obstructive and non-obstructive coronary artery disease (NOCAD) cases despite revascularization. Bisoprolol preempts further progression of left ventricular dysfunction in such cases due to anti-ischemic and anti-hypertensive effects, further extending its evaluation in local Indian settings.
Methods: Post-hoc analyses of NOCAD patients with epicardial stenosis (N=378, 30 to 70% stenosis) from cross-sectional analyses conducted across eighty centers in India.
Sci Rep
January 2025
Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression in DMD. It is approved in the US and in other select countries. Two serious adverse event cases of immune-mediated myositis (IMM) were reported in the phase Ib ENDEAVOR trial (NCT04626674).
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