Myology research highlights

The Myotonic Dystrophy Health Index (MDHI) is a disease-specific patient-reported outcome measure. Here, the associations between the MDHI and other measures of disease burden in a cohort of 70 individuals with myotonic dystrophy type-1 (DM1) were measured. Participants completed assessments of strength, myotonia, motor and respiratory function, ambulation, and body composition. They also provided blood … [Read more]

Therapy-responsive biomarkers are an important and unmet need in the muscular dystrophy field where new treatments are currently in clinical trials. By using a comprehensive high-resolution mass spectrometry approach and western blot validation, two fragments of the myofibrillar structural protein myomesin-3 (MYOM3) were found to be abnormally present in sera of Duchenne muscular dystrophy (DMD) … [Read more]

Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD). In this study, the ocular characteristics and neuropsychiatric profile of 16 DMD boys … [Read more]

A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. Here, the authors define the clinical characteristics in 15 patients, from 14 unrelated families with so-called ‘megaconial … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. The authors of the present … [Read more]

Respiratory insufficiency in facioscapulohumeral muscular dystrophy has rarely been studied. This study compared two age- and sex-matched groups of 29 patients, with and without respiratory dysfunction. Tests in the 29 patients with respiratory dysfunction suggested predominant expiratory muscle dysfunction, leading to ineffective cough in 17 patients. Supine and upright vital capacities were not different (P = 0.76), … [Read more]

Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and age-matched … [Read more]

Spinal muscular atrophy (SMA), which results from the loss of expression of the survival of motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric mortality. A duplicate copy (SMN2) is inefficiently spliced, producing a truncated and unstable protein. This study describes a potent, orally active, small-molecule enhancer of SMN2 splicing that elevates … [Read more]

Mutations in ACTA1 have been associated with different pathologic findings including nemaline myopathy, intranuclear rod myopathy, actin myopathy, cap myopathy, congenital fiber type disproportion, and core myopathy. Myofibrillar myopathies are morphologically distinct but genetically heterogeneous muscular dystrophies arising from mutations in Z-disk related proteins. Here, the authors report a 26-month-old boy with significantly delayed motor … [Read more]

New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. This study aimed to determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromuscular disorder by using linkage and exome sequencing. The large family (14 affected individuals from 6 generations) evaluated in … [Read more]