Myology research highlights
RSS feedCardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives
Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Female DMD/BMD carriers (DMDc/BMDc) are mostly free of skeletal muscle symptoms, but they are also prone to cardiomyopathy. This study aimed to characterize the frequency, pattern, and extent of cardiomyopathy in 36 female DMD/BMD … [Read more]
Revised Duchenne Anesthesia Recommendations 2015
Parent Project Muscular Dystrophy (PPMD) is a patient advocacy foundation focused on advancing research that will lead to treatments for Duchenne and Becker muscular dystrophy (DMD and BMD) PPMD has updated Duchenne Anesthesia Recommendations on its website. Indeed, new evidence suggests that while rhabdomyolysis may still be possible with inhaled anesthetics, it is rare, and unrelated … [Read more]
Stem cell-derived muscle fibers offer new avenue for muscular dystrophy treatment
A study recently published in Nature Biotechnology revealed a new technique to generate muscle fibers, thus offering a better model to study muscular diseases including Duchenne muscular dystrophy (DMD). During embryonic development, skeletal muscles arise from somites, which derive from the presomitic mesoderm (PSM). Using PSM development as a guide, the authors establish conditions for … [Read more]
Development of a QoL questionnaire for slowly progressive neuromuscular disease
To assess health-related quality of life (HRQL) in patients suffering from slowly progressive neuromuscular disease (NMD) using item response theory (IRT), a questionnaire called QoL-NMD was developed. It is composed of two general items and 24 items classified in three domains: (1) “Impact of Physical Symptoms,” (2) “Self-perception” and (3) “Activities and Social Participation.” Each … [Read more]
Identification of a spectrum of clinical phenotypes associated with GMPPB mutations
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. This study presents a fifth glycosylation gene, GMPPB, where mutations cause … [Read more]
HACD1 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]
