Myology research highlights

In this study, the authors aimed to develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). In a discovery cohort, they used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with previous data … [Read more]

Myotonic dystrophy type 1 (DM1) is an inherited dominant muscular dystrophy caused by expanded CTG•CAG triplet repeats in the 3′ UTR of the DMPK1 gene, which produces a toxic gain-of-function CUG RNA. It has been shown that the severity of disease symptoms, age of onset and progression are related to the length of the triplet … [Read more]

Genetic defects in calpain3 (CAPN3) leads to Limb-Girdle Muscular Dystrophy type 2A (LGMD2A), a disease of the skeletal muscle that affects predominantly the proximal limb muscles. The authors of this study have previously demonstrated the potential of Adeno-Associated Virus (AAV)-mediated transfer of the CAPN3 gene to correct the pathological signs in a murine model for … [Read more]

In this retrospective study that took place over the last 30 years, the life expectancy in patients suffering from Duchenne muscular dystrophy (DMD) was investigated by analysing the role of ventilatory assistance and causes of death. One hundred and nineteen adult DMD patients were followed from 1981 to 2011 at the AFM Yolaine de Kepper … [Read more]

Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches to the treatment of several neuromuscular disorders including Duchenne muscular dystrophy. The main weakness of this approach arises from the low efficiency and sporadic nature of the delivery of charge-neutral PMO into muscle fibers, the mechanism of which is unknown. In this study, … [Read more]

Demyelinating Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyneuropathy (CIDP) are both demyelinating polyneuropathies. The differences in nerve enlargement degree and pattern at multiple evaluation sites/levels are not well known. In this study, the authors investigated the differences in nerve enlargement degree and the distribution pattern of nerve enlargement in patients with demyelinating CMT and … [Read more]

Andersen-Tawil syndrome (ATS) is an uncommon form of channelopathy linked to mutations in the KCNJ2 gene. Currently, little is known about the long-term arrhythmic prognosis of this disease. In this study, the authors conducted a retrospective multicentre study in nine French hospitals. Patients were recruited only if they were KCNJ2 mutation carriers. Thirty-six patients (female … [Read more]

Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harbouring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). To identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood … [Read more]

This prospective study aimed to measure and analyse for up to 42 months, motor unit number estimation (MUNE) values longitudinally in 62 children with spinal muscular atrophy (SMA) types 2 and 3. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Significant motor neuron loss … [Read more]

Trial design for SMA depends on meaningful rating scales to assess  outcomes. In this study Rasch methodology was applied to 9 motor scales in SMA. Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests of fit, spread of … [Read more]