Blog Archives
GMPPB mutations cause muscular dystrophy variants with hypoglycosylated á-DG
Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle … [Read more]
Use of the 6-minute-walk-distance to measure ambulatory capacity and disease progression in DMD boys
In order to understand the contemporary natural history of Duchenne muscular dystrophy (DMD), the authors report 6-minute walk distance (6MWD) and its change over time from a large single centre population of corticosteroid treated DMD boys. Sixty-five boys on daily corticosteroid treatment were identified with a mean (SD) age of 9.5 (2.3) years at first … [Read more]
Delivery of optimal doses of AAV-U7 to dystrophic muscles is necessary for successful AAV-U7 therapy for Duchenne patients
In the context of future adeno-associated viral (AAV)-based clinical trials for Duchenne myopathy, AAV genome fate in dystrophic muscles is of importance considering the viral capsid immunogenicity that prohibits recurring treatments. Here, researchers have demonstrated that AAV genomes encoding non-therapeutic U7 were lost from mdx dystrophic muscles within 3 weeks after intramuscular injection. In contrast, … [Read more]
Vitamin D deficiency in myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder affecting, among others, the endocrine system, with derangement of steroid hormones functions. Vitamin D is a steroid recognized for its role in calcium homeostasis. In addition, vitamin D influences muscle metabolism by genomic and non-genomic actions, including stimulation of the insulin-like-growth-factor 1 (IGF1), a major regulator … [Read more]
A prospective study of patients with non-dystrophic myotonia
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]
Creatine for treating muscle disorders
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]
DMD symptoms show up early and can be measured
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]
Antisense oligonucleotides as personalised medicine for Duchenne muscular dystrophy
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]
The XVIth Summer School of Myology
During 10 days each year, The Institute of Myology organises the Summer School of Myology to allow research doctors from abroad and the French overseas territories to follow a condense program of Myology courses. The XVIth sixteenth Summer School welcomed 58 students, the largest number so far. No less than 29 different nationalities were represented … [Read more]
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches
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]
