Myology research highlights

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]

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, the authors report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and … [Read more]

A comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM) in the U.S was conducted. The total impact on the U.S. economy, including direct medical costs, non-medical costs, and loss of income was determined. Medical costs were calculated using a commercial insurance database and Medicare … [Read more]

Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSDII complicated by … [Read more]

The role of plasmapheresis before thymectomy remains controversial. The aim of this study is to determine the peri-operative and post-operative outcome of a thymectomy between performing and not performing a pre-operative plasmapheresis. A retrospective chart review study was conducted in Chiang Mai University Hospital between January 2006 and December 2011. There were 86 myasthenia patients … [Read more]

Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant genetic disease mainly characterized by ptosis and dysphagia. The authors conducted a Phase I/IIa clinical study (ClinicalTrials.gov NCT00773227) using autologous myoblast transplantation following myotomy in adult OPMD patients. This study included 12 patients with clinical diagnosis of OPMD, indication for cricopharyngeal myotomy, and confirmed genetic … [Read more]

Facioscapulohumeral muscular dystrophy is a dominantly inherited myopathy associated with chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4. DUX4 is encoded within each unit of the D4Z4 array where it is normally transcriptionally silenced and packaged as constitutive heterochromatin. Truncation of the array to less than 11 D4Z4 units (FSHD1) or mutations in … [Read more]