Myology research highlights
RSS feedSwiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease
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]
Characterisation of sleep disturbances in myotonic dystrophy type 2
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]
The candidate drug RG3039 provides benefit in SMA animal models
Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene, and insufficient expression of full-length survival motor neuron (SMN) protein. Since SMA patients have at least one copy of SMN2, drug discovery campaigns have sought to identify SMN2 inducers. C5-substituted … [Read more]
Improvements in neural and cardiorespiratory function following AAV9 administration in Pompe disease
Pompe disease is a neuromuscular disease resulting from deficiency in acid α-glucosidase (GAA), results in cardiac, skeletal muscle, and central nervous system (CNS) pathology. Enzyme replacement therapy (ERT) has been shown to partially correct cardiac and skeletal muscle dysfunction. However, ERT does not cross the blood-brain barrier and progressive CNS pathology ensues. Here, the authors … [Read more]
Two is better than one: A case of homozygous myotonic dystrophy type 1
Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, and myotonia are thought to be dependent on repeat number, with larger expansions generally leading to earlier and/or more … [Read more]
Myoblast transplantation between symptomatic and asymptomatic monozygotic twin sisters: 20 year follow-up
Duchenne muscular dystrophy is due to a mutation on the X-chromosome, therefore it rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. This study reports the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with myoblasts received from her asymptomatic monozygotic twin sister … [Read more]
Targeted genome editing shows promise in DMD
Genome editing with engineered nucleases has recently emerged as an approach to correct genetic mutations by enhancing homologous recombination with a DNA repair template. However, many genetic diseases, such as Duchenne muscular dystrophy (DMD), can be treated simply by correcting a disrupted reading frame. In this study, the authors show that genome editing with transcription … [Read more]
Exome sequencing identifies MARS as a novel cause of late-onset CMT2
Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. In this short report, the authors present data suggesting that MARS is a very rare novel cause of late-onset CMT2. … [Read more]
Autosomal recessive mutations in desmin cause LGMD2
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families that are unlinked to any of the known loci. The … [Read more]
Mutations in BICD2 cause autosomal dominant SMA
A new gene, bicaudal D homolog 2 (Drosophila) (BICD2) has been identified to cause both dominant congenital spinal muscular atrophy (DCSMA) and hereditary spastic paraplegia (HSP). Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, … [Read more]
