Myology research highlights

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]

Duchenne muscular dystrophy (DMD) is a devastating progressive disease for which there is currently no effective treatment except palliative therapy. There are several promising genetic approaches, including viral delivery of the missing dystrophin gene, read-through of translation stop codons, exon skipping to restore the reading frame and increased expression of the compensatory utrophin gene. In … [Read more]

The loss of functional Survival Motor Neuron (SMN) protein due to mutations or deletion in the SMN1 gene causes autosomal recessive neurodegenerative spinal muscle atrophy (SMA). A potential treatment strategy for SMA is to upregulate the amount of SMN protein originating from the highly homologous SMN2 gene, compensating in part for the absence of the … [Read more]

Therapeutic trials in Duchenne Muscular Dystrophy (DMD) exclude young boys because traditional outcome measures rely on cooperation. The Bayley III Scales of Infant and Toddler Development (Bayley III) have been validated in developing children and those with developmental disorders but have not been studied in DMD. Expanded Hammersmith Functional Motor Scale (HFMSE) and North Star … [Read more]

Progressive muscle weakness is a main symptom of most hereditary and acquired muscle diseases. Creatine improves muscle performance in healthy individuals. In this update of a 2007 Cochrane review that evaluated creatine treatment in muscle disorders, the authors aimed to evaluate the efficacy of creatine compared to placebo for the treatment of muscle weakness in … [Read more]

Lambert-Eaton myasthenic syndrome is a rare and autoimmune presynaptic disorder of the neuromuscular junction, due in 85% of cases to autoantibodies directed against voltage-gated calcium channels. It is a paraneoplastic disorder in 50 to 60% of cases. Diagnosis involves a proximal muscle weakness and areflexia, associated with a significant increment after post-exercise stimulation in electrophysiological … [Read more]

Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive foetal akinesia sequence. Herein, the authors studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. Whole-exome sequencing of six families and targeted gene sequencing of additional families were performed: … [Read more]

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]