Myology research highlights
RSS feedHACD1 promotes myoblast fusion and skeletal muscle growth
The reduced diameter of skeletal myofibres is a hallmark of several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, the role of HACD1/PTPLA, which is involved in the elongation of the very long chain fatty acids in muscle fibre formation was investigated. In humans and dogs, HACD1 deficiency leads … [Read more]
Regular aerobic training with or without postexercise protein improves fitness in FHSD
This randomized, double-blind, placebo-controlled parallel study, investigated the effect of regular aerobic training and postexercise protein-carbohydrate supplementation in patients with facioscapulohumeral muscular dystrophy (FSHD). Trained participants, demonstrated improved fitness, workload, and walking speed (10% [confidence interval (CI) 4%-15%], 18% [CI 10%-26%], 7% [CI 4%-11%], respectively, p < 0.001, number needed to treat = 2.1). Self-assessed … [Read more]
Early-onset LMNA-related muscular dystrophy is mainly due to de novo mutations in the LMNA gene
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of … [Read more]
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype-genotype relationships that propel the pathology of this disabling disease. Two unrelated children who had severe reduction deficits of the hands and feet with absence of nails, progressive heterotopic ossification, hypoplasia of the … [Read more]
Parent Project Muscular Dystrophy: Development of the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration
Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. In this article, the authors describe how the Duchenne muscular dystrophy community-led by Parent Project Muscular Dystrophy-created a proposed draft guidance … [Read more]
Measuring disease burden with the myotonic dystrophy health index
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]
MYOM3 fragments are biomarkers for the detection, evaluation and treatment monitoring of muscular dystrophies
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]
Ocular and neurodevelopmental characteristics in Duchenne muscular dystrophy
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]
Clinical characteristics of megaconial congenital muscular dystrophy
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]
FAT1 expression and disease onset in FSHD muscles
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]
