Myology research highlights

Two multicenter randomised, double-blind, placebo-controlled trials were carried out to determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis. The trials, which included 44 HOP and 21 HYP participants, lasted 9 weeks and were followed by a 1-year extension phase … [Read more]

Nusinersen (previously ISIS-SMNRx) is an antisense oligonucleotide designed to bind to the SMN2 pre-mRNA and promote inclusion of exon 7. This first-in-human, open-label, single- ascending dose study was designed to examine safety, tolerability, pharmacokinetics, and preliminary clinical effects of intrathecal nusinersen in medically stable patients (aged 2-14 years) with type 2 and type 3 spinal … [Read more]

In this study, the authors aimed to determine the feasibility and reliability of testing specific putative physiological and molecular spinal muscular atrophy (SMA) biomarkers in infants with SMA (n=26) and in age‐matched healthy control infants (n=27). Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Infant … [Read more]

Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. This study reports on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. Autozygosity mapping and whole-exome sequencing were used to search for pathogenic mutations in four families. … [Read more]

Myotonic Dystrophy type 1 (DM1), the most frequent adult muscular dystrophy, is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict … [Read more]

Here, the suthors describe the development of an accurate and affordable test for the non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD). Cell-free DNA (cfDNA) was extracted from maternal blood and prepared for massively parallel sequencing (MPS) on an Illumina MiSeq by targeted capture enrichment of SNPs across the dystrophin gene on … [Read more]

Limb girdle muscular dystrophies (LGMD) are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. In order to facilitate diagnostic accuracy, the authors clarified muscle … [Read more]

This paper provides a summary of the 2005 American Academy of Neurology (AAN) guideline update, “Corticosteroid treatment of Duchenne muscular dystrophy.” With the current variations in practice in corticosteroid use, the following questions regarding patients with DMD were addressed: What is the efficacy of corticosteroids, specifically their effect on survival, quality of life (QoL), motor … [Read more]

Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, the authors found … [Read more]

Defects in mRNA 3′ end formation have been described to alter transcription termination, transport of the mRNA from the nucleus to the cytoplasm, stability of the mRNA and translation efficiency. Therefore, inhibition of polyadenylation may lead to gene silencing. Herein, Facioscapulohumeral Dystrophy (FSHD) was used as a model to determine whether or not targeting key … [Read more]