Blog Archives

The objective of this report was to identify the level of evidence for use of nusinersen to treat spinal muscular atrophy (SMA) and review clinical considerations regarding use. The author panel systematically reviewed nusinersen clinical trials for patients with SMA and assigned level of evidence statements based on the American Academy of Neurology’s 2017 therapeutic … [Read more]

Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. Here, the authors performed exome sequencing on two consanguineous probands diagnosed with a congenital … [Read more]

The intestinal microbiota plays a key role in the maintenance of human health. Alterations in this microbiota have been described in several autoimmune diseases, including nervous system diseases. Nevertheless, the information regarding neuromuscular conditions is still limited. In this study, the authors aimed to characterize the intestinal microbiota composition in myasthenia gravis (MG) patients. To … [Read more]

The purpose of this study was to examine the feasibility, reliability, and convergent validity of a new performance-based measure assessing functional ability in adults with Charcot-Marie-Tooth (CMT), the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Forty-three adults with CMT1A (70% women; mean age 41, SD 14.9 years) participated in this study. The CMT-FOM (mean 25.3 ± 8.7, … [Read more]

Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. This study reports two patients with Duchenne muscular dystrophy (DMD)  who presented an apparent transient rhabdomyolysis with myoglobinuria after zoledronate administration. Possible mechanisms could involve hypophosphatemia, a known dose-dependent side effect of bisphosphonates, and/or direct myotoxicity … [Read more]

Vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. This 2-week, open-label Phase IIa multiple ascending dose study of vamorolone (0.25, 0.75, 2.0, and 6.0 mg/kg/day) enrolled 48 boys with Duchenne muscular dystrophy (DMD) (4 to <7 years), with outcomes including clinical safety, pharmacokinetics and pharmacodynamic biomarkers. The study design included pharmacodynamic biomarkers in three contexts of use: … [Read more]

Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here the authors describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). … [Read more]

The deltaE50-MD dog model of Duchenne muscular dystrophy (DMD) harbours a mutation corresponding to a mutational “hotspot” in the human DMD gene. Here, the authors used adeno-associated viruses to deliver CRISPR gene editing components to four dogs and examined dystrophin protein expression 6 weeks after intramuscular delivery (n = 2) or 8 weeks after systemic … [Read more]