Blog Archives

Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, the authors of the present study performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes … [Read more]

McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g., lifting weights) to induce muscular contraction, which builds muscle mass and strength. Historically people with McArdle disease were advised … [Read more]

Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, the authors compared the diagnostic … [Read more]

The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the quality of care, with early corticosteroid use prolonging independent ambulation, and the routine use of non-invasive ventilation significantly increasing survival. The next target to improve outcomes is … [Read more]

This study describes longitudinal changes in pulmonary function measures in Duchenne muscular dystrophy (DMD) patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. Over a period up to 10 years 397 participants underwent 2799 pulmonary function assessments: 53 … [Read more]

Attention-deficit hyperactivity disorder (ADHD) is a common comorbidity in Duchenne muscular dystrophy (DMD). Until now, treatment with methylphenidate (MPH) has never been systematically assessed and described in this population. Here, the authors aimed was to evaluate the effectiveness and safety of short acting MPH for learning problems in males with DMD and ADHD. Neuropsychological (cognition … [Read more]