Myology research highlights

A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystrophy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates in muscles of OPMD patients. While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice have been established, the molecular mechanisms which trigger pathological defects … [Read more]

EXONDYS 51™ (eteplirsen), a therapy aimed at skipping exon 51 of the DMD gene involved in Duchenne muscular dystrophy (DMD), has received accelerated approval in the United States. Sarepta Therapeutics announced on Monday, September 19, 2016, that the US drug agency (Food and Drug Administration or FDA) has granted marketing authorisation (MA) for EXONDYS 51™ … [Read more]

This retrospective case note reviewed mortality in DMD patients in North East England over the last 10 years. It aimed to identify potential underlying risk factors for premature death and improve clinical care. Two groups of patients were identified: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly … [Read more]

Patients with Duchenne muscular dystrophy (DMD) develop dilated cardiomyopathy and are at risk for kidney injury. Creatinine based estimated glomerular filtration rate (eGFR) is limited by low muscle mass with low serum creatinine levels in DMD. Here, the authors assessed the relationship between cardiac function, modified Schwartz eGFR and cystatin C eGFR in patients with … [Read more]

This study evaluated compliance with non-invasive ventilation in patients with myotonic dystrophy type 1 and identified predictors of cessation at 5 years in a cohort of patients followed in a specialist center for Neuromuscular Diseases in France. Mechanical ventilation in these patients poses a very strong challenge to caregivers. Factors predicting relative compliance were identified … [Read more]

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]