Myology research highlights

A national UK workshop to discuss practical clinical management issues related to pregnancy in women with myasthenia gravis was held in May 2011. The purpose was to develop recommendations to guide general neurologists and obstetricians and facilitate best practice before, during and after pregnancy. The main conclusions were (1) planning should be instituted well in … [Read more]

Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due to a mutation in the acid alpha glucosidase (GAA) gene. The level of residual enzyme activity, the genotype and other yet unknown factors account for the broad variation of the clinical phenotype. The classical infantile form is … [Read more]

Although sleep disturbances are common in myotonic dystrophy type 1 (DM1), sleep disturbances in myotonic dystrophy type 2 (DM2) have not been well-characterised. In this study describing the frequency of sleep disturbances in DM2, a case-control study of 54 genetically confirmed DM2 subjects and 104 medical controls without DM1 or DM2 was conducted and common … [Read more]

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder affecting, among others, the endocrine system, with derangement of steroid hormones functions. Vitamin D is a steroid recognized for its role in calcium homeostasis. In addition, vitamin D influences muscle metabolism by genomic and non-genomic actions, including stimulation of the insulin-like-growth-factor 1 (IGF1), a major regulator … [Read more]

In the context of future adeno-associated viral (AAV)-based clinical trials for Duchenne myopathy, AAV genome fate in dystrophic muscles is of importance considering the viral capsid immunogenicity that prohibits recurring treatments. Here, researchers have demonstrated that AAV genomes encoding non-therapeutic U7 were lost from mdx dystrophic muscles within 3 weeks after intramuscular injection. In contrast, … [Read more]

In order to understand the contemporary natural history of Duchenne muscular dystrophy (DMD), the authors report 6-minute walk distance (6MWD) and its change over time from a large single centre population of corticosteroid treated DMD boys. Sixty-five boys on daily corticosteroid treatment were identified with a mean (SD) age of 9.5 (2.3) years at first … [Read more]

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle … [Read more]

In this study, the authors aimed to identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family in 14 members of a Korean family. Three individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. Exome sequencing was performed on 6 samples (3 affected and … [Read more]

Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. In this study, the authors performed a prospective observational study of 95 participants with … [Read more]

DMD is a severe X linked neuromuscular disorder where symptoms may arise as early as 2 years of age and patient surviving till adulthood is extremely rare. This is caused by mutations in dystrophin-a critical gene for muscle fibre strength- leading to a severe reduction of the dystrophin protein in muscles. A milder form DMD … [Read more]