Blog Archives

In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is involved early and often difficult to assess, relying only on physical examination. This study aimed to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. An MRI protocol evaluating neck and upper girdle … [Read more]

MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense mutations in MYOT have been associated with autosomal dominant myofibrillar myopathy, limb-girdle muscular dystrophy type 1A and distal myopathy. Myotilin itself is significantly expressed in skeletal and cardiac … [Read more]

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document, the authors review … [Read more]

Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are inherited muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen (Col) VI. Opening of the cyclosporin A-sensitive mitochondrial permeability transition pore is a causative event in disease pathogenesis, and a potential target for therapy. Here the authors have tested the … [Read more]

Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases – there is no effective treatment. Foot and ankle weakness is a major problem for children with CMT, thus interventions that focus on maintaining and increasing strength may provide a solution. In this randomised, controlled trial, the effect and safety of progressive resistance … [Read more]

This study aimed to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy (SMA) with excluded biallelic loss of the SMN1 gene. Point missense mutations or small deletions in the SMN1 gene were ultimately identified in 18 patients. Six patients were found to have small deletions, the c.429_435del mutation in … [Read more]

This study aimed to characterize the clinical and myopathological features of patients with scleroderma-polymyositis (SSc-PM) overlap syndrome compared to a population of patients with systemic sclerosis (SSc) and polymyositis (PM). A three-way comparison of clinical and myopathological features and causes of death was carried out between patients with SSc-PM overlap syndrome (n = 25), patients … [Read more]

Duchenne muscular dystrophy is an inherited degenerative muscle disease with progressive weakness of skeletal and cardiac muscle. Disturbed calcium homeostasis and signalling pathways result in degeneration/regeneration cycles with fibrotic remodelling of muscle tissue, sustained by chronic inflammation. In addition to altered microarchitecture, regeneration in dystrophic muscle fibres is often only classified by centrally located nuclei … [Read more]

Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. Here, the authors studied 75 patients with DMD followed at their institution. Cardiac function, as assessed by … [Read more]

Clostridium difficile (C diff) colitis infection is the most common cause of nosocomial infectious diarrhea and the prevalence is increasing worldwide. Toxic megacolon is a severe complication of C diff colitis associated with high mortality. Gastrointestinal (GI) comorbidity and impaired smooth muscle contraction are risk factors for the development of C diff-associated toxic megacolon. This … [Read more]