Myology research highlights

Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is often overlooked or delayed in adults, owing to its low frequency compared to other muscle disorders with similar muscle patterns. Next-generation sequencing (NGS) … [Read more]

The auhors have previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed a total of 1104 abstracts and 167 full-text articles from 1985 to 2011. Pooling of prevalence estimates … [Read more]

The CRISPR/Cas9 system is a great revolution in biology. This technology allows the modification of genes in vitro and in vivo in a wide variety of living organisms. In most Duchenne muscular dystrophy (DMD) patients, expression of dystrophin (DYS) protein is disrupted because exon deletions result in a frame shift. This study describes CRISPR-induced deletion … [Read more]

Autologous stem cells that have been genetically modified to express dystrophin are a possible means of treating Duchenne Muscular Dystrophy (DMD). To maximize the therapeutic effect, dystrophin construct needs to contain as many functional motifs as possible, within the packaging capacity of the viral vector. Existing dystrophin constructs used for transduction of muscle stem cells … [Read more]

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. Here, the authors examined a Korean family in which two individuals had an autosomal dominant axonal CMT with early onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense … [Read more]

The development of therapeutics for neurological disorders is constrained by limited access to the central nervous system (CNS). ATP-binding cassette (ABC) transporters, particularly P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), are expressed on the luminal surface of capillaries in the CNS and transport drugs out of the endothelium back into the blood against the … [Read more]

This study retrospectively merged databases from different large multicentric networks in the United States and Europe in order to establish (i) 12-month HFMSE changes in a larger cohort than those previously reported; (ii) possible differences of progression between ambulant and non-ambulant patients; (iii) the possible effect of different variables, such as gender, baseline values or … [Read more]

  Herein, the authors a report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. Whole-exome sequencing (WES) was performed in tandem with linkage analysis and candidate gene approach as well as targeted next-generation sequencing (tNGS) … [Read more]

  Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms … [Read more]

  Dysphagia is a common symptom in myotonic dystrophy (DM1), that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. Preexisting cognitive impairment or apathy, both well described in the DM1 literature, may contribute to management challenges. Caregivers may become important for managing a family member’s swallowing dysfunction. … [Read more]