Blog Archives

In this study that included 14 DMD patients [young adults (n=7, 18-25 year-old and older adults (n=7, 30-37 year-old) groups] and 16 age-matched normal volunteers, the autgors aimed to determine the distribution of GABAA receptors (GABAA -Rs) in the brain of Duchenne muscular dystrophy (DMD) patients and to ascertain if the distribution pattern correlates with … [Read more]

Results of ongoing preclinical and clinical trials suggest that partial restoration of dystrophin might be sufficient to significantly reduce muscle damage. Different myogenic progenitors are candidates for cell therapy of muscular dystrophies, but only satellite cells and pericytes have already entered clinical experimentation. This study aimed to provide in vitro quantitative evidence of the ability … [Read more]

Immunoglobulin therapy has become a major treatment option in several autoimmune neuromuscular disorders. For patients with Myasthenia Gravis (MG), intravenous immunoglobulin (IVIg) has been used for both crisis and chronic management. Subcutaneous Immunoglobulins (SCIg), which offer the advantage of home administration, may be a practical and effective option in chronic management of MG. In this … [Read more]

This review focuses on the advances that have been made in understanding the genetics of the idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular emphasis on polymyositis, dermatomyositis and inclusion body myositis. Two large human leukocyte antigen (HLA) imputation studies have confirmed a strong association with the 8.1 ancestral haplotype in … [Read more]

To date, a quality of life (QOL) measure specific for MG does not exist in French. Here, translation and cross-cultural adaption of the French Myasthenia Gravis Quality of Life Scale (MG-QOL 15) followed by reliability and validity evaluations were performed in 125 French myasthenic patients. Internal consistency was excellent (Cronbach alpha = 0.92) as was … [Read more]

Drisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in Duchenne muscular dystrophy (DMD) patients with amenable mutations. This 188-week open-label extension of the dose-escalation study assessed the long-term efficacy, safety, and pharmacokinetics of drisapersen (PRO051/GSK2402968), 6 mg/kg subcutaneously, in 12 DMD subjects. Dosing was once weekly for … [Read more]

With the widespread prescription and use of statins to decrease morbidity from myocardial infarction and stroke, it has been noted that approximately 5% of all statin users experience muscle pain and weakness during treatment. In a smaller proportion of patients, the myopathy progressed to severe morbidity marked by proximal weakness and severe muscle wasting. The … [Read more]

This article dexcribes a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet; cavus feet; and lordosis but no scoliosis. She had previously been … [Read more]

Randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only. This study assessed the safety and efficacy of a 6-month home-based exercise training program on fitness, muscle, and motor function in 16 FSHD patients who were randomly assigned to training (TG) and control (CG) groups … [Read more]

In this randomized, double-blind, placebo-controlled, ascending dose trial, ACE-03, a myostatin inhibitor, was administered subcutaneously every 2-4 weeks to Duchenne muscular dystrophy (DMD). boys. The primary objective was safety evaluation and secondary objectives included characterization of pharmacokinetics and pharmacodynamics. ACE-031 was not associated with serious or severe adverse events. However, the study was stopped after … [Read more]