Blog Archives
Cardiac 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]
NMR Lab was rewarded at ISMRM congress
The most recent congress of ISMRM (International Society for Magnetic Resonance in Medicine) was held in Toronto (Canada) from May 30th to June 5th. The team of Dr Pierre Carlier (NMR Laboratory – Spectroscopy Laboratory) presented several abstracts wherein four won awards. Moreover, among five oral communications, the third place was bestowed in “Musculo-Skeletal” category … [Read more]
Telethon 2015: 4 families, 4 stories, 4 fights against rare disease
Four families, all affected by rare diseases, will be the ambassadors of thousands, all gathered around the message: “The Fight of Parents, The Life of Children.” On December 4th and 5th, together with Marc Lavoine, the official ambassador of Telethon 2015, four families will represent the fight of the AFM-Telethon. Séthi, Léo, Nicolas and Marie … [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]
Two-year post-doctoral fellowship available at the Institute
Stéphane Vassilopoulos from team 2 “Pathophysiology & therapy of the autosomal dominant centronuclear myopathy” directed by Dr Marc Bitoun (Myology Research Centre) offers a two-year post-doctoral fellowship to begin between 10/01/2015 and 01/01/2016, “to assess the role of the endocytic machinery in mechanotransduction”. > Download the announcement > Contact : Stéphane Vassilopoulos s.vassilopoulos@institut-myologie.org
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]
