Blog Archives

Duchenne muscular dystrophy in boys progresses rapidly to severe impairment of muscle function and death in the second or third decade of life. Current supportive therapy with corticosteroids results in a modest increase in strength as a consequence of a general reduction in inflammation, albeit with potential untoward long-term side effects and ultimate failure of … [Read more]

 Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature. Systemic administration of a single dose of a recombinant serotype 8 adeno-associated virus (AAV8) vector expressing murine myotubularin to Mtm1-deficient knockout mice at the onset or at late stages of the disease … [Read more]

Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. Herein, the authors aimed to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. They conducted a retrospective study that aimed to analyse clinical and echocardiographic data of patients with sarcoglycanopathies. They included 19 patients: … [Read more]

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy caused by mutations in the dystrophin gene. DMD is characterized by progressive muscle wasting and weakness, with the onset of symptoms occurring in the early childhood and consequently leading to paralysis and death for respiratory or cardiac failure. There is no cure and glucocorticoids are … [Read more]

This study sought to compare the effectiveness and safety of an angiotensin converting enzyme inhibitor (ACE-I) (lisinopril) vs. an angiotensin receptor blocker (ARB) (losartan) for the treatment of cardiomyopathy (CM) in boys with Duchenne muscular dystrophy (DMD). Development of CM is universal in boys with DMD. ACE-I and ARB have both been suggested as effective … [Read more]

Development of novel therapeutics requires good animal models of disease. Disorders for which good animal models do not exist have very few drugs in development or clinical trial. Even where there are accepted, albeit imperfect models, the leap from promising preclinical drug results to positive clinical trials commonly fails, including in disorders of skeletal muscle. … [Read more]

Myotonic dystrophy type 2 (DM2) is an incurable neuromuscular disorder caused by a r(CCUG) expansion (r(CCUG)exp) that folds into an extended hairpin with periodically repeating 2×2 nucleotide internal loops (5’CCUG/3’GUCC). We designed multivalent compounds that improve DM2-associated defects using information about RNA-small molecule interactions. We also report the first crystal structure of r(CCUG) repeats refined … [Read more]

Cardiac dysfunction is the second leading cause of death in myotonic dystrophy type 1 (DM1), primarily because of arrhythmias and cardiac conduction defects. A screen of more than 500 microRNAs (miRNAs) in a DM1 mouse model identified 54 miRNAs that were differentially expressed in heart. More than 80% exhibited downregulation toward the embryonic expression pattern … [Read more]

In this study, the effects of pain site and intensity on function were examined in patients with myotonic dystrophy type 1 (DM1) and facioscapulohumeral muscular dystrophy (FSHD) and chronic pain. Questionnaires assessing pain sites, pain extent (number of sites), pain intensity, and pain interference were completed by 182 individuals with DM1 (43%) or FSHD (57%) … [Read more]

Herein, the authors determined the frequency, rate and extent of development of scoliosis (coronal plane deformity) in wheelchair-dependent patients with Duchenne muscular dystrophy (DMD) who were not receiving steroid treatment. They also assessed kyphosis and lordosis (sagittal plane deformity). The extent of scoliosis was assessed on sitting anteroposterior (AP) spinal radiographs in 88 consecutive non-ambulatory … [Read more]