Myology research highlights

Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against neuromuscular junction proteins, 85% of patients have antibodies against acetylcholine receptor (AChR-MG). Antititin antibodies are present in a subset of patients with MG. This study aimed to determine the value of antititin antibodies as severity markers and thymoma predictors in early- and late-onset MG. … [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]

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]

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]

Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. In this paper, the authors addressed this challenge by combining … [Read more]

Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion dystroglycan, α-dystroglycan, mediate ECM interactions and most known … [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]

Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most … [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]

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]