Myology research highlights

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20-item version of the Motor Function Measure in non-ambulant SMA children and adults at baseline and over a 12-month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an … [Read more]

The symptoms of acquired autoimmune ocular myasthenia are restricted to the extrinsic eye muscles, causing double vision and drooping eyelids. These guidelines are designed to provide advice about best clinical practice based on the current state of clinical and scientific knowledge and the consensus of an expert panel. Evidence for these guidelines was collected by … [Read more]

The ability to extract somatic cells from a patient and reprogram them to pluripotency opens up new possibilities for personalized medicine. Induced pluripotent stem cells (iPSCs) have been employed to generate beating cardiomyocytes from a patient’s skin or blood cells. Here, iPSC methods were used to generate cardiomyocytes starting from the urine of a patient … [Read more]

Duchenne muscular dystrophy (DMD) is strongly associated with a unique form of dilated cardiomyopathy. Cardiac complications are the leading cause of death in DMD; thus, longitudinal assessments and early intervention for cardiac dysfunction are necessary to improve prognosis. Two-dimensional echocardiography, which is routinely used for cardiac assessment, has some limitations for quantitative analyses in DMD … [Read more]

This study aimed to identify and validate serum biomarkers for the progression of Duchenne Muscular Dystrophy (DMD) using a MS-based bottom-up pipeline. A bottom-up proteomics approach was employed, including a protein concentration equalization step, different proteolytic digestions and MS detection schemes, to identify candidate biomarkers in serum samples from control subjects and DMD patients. Fibronectin … [Read more]

The objective of this study was to analyze Charcot-Marie-Tooth disease type 1A (CMT1A) evolution. A 2-year longitudinal study in 14 CMT1A patients and 14 age- and sex-matched controls was conducted. In the patients, neurological examination with hand-held dynamometry, electrophysiology, and lower-limb muscle MRI were performed, both at baseline and 2 years later, while controls were … [Read more]

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]

Muscle fibers form as a result of myoblast fusion, yet the cell surface receptors regulating this process are unknown in vertebrates. In Drosophila, myoblast fusion involves the activation of the Rac pathway by the guanine nucleotide exchange factor Myoblast City and its scaffolding protein ELMO, downstream of cell-surface cell-adhesion receptors. The authors have previously demonstrated … [Read more]

The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy (DMD). The aim of this study was to assess (1) a cohort of typically developing children from the age of 3 years onwards in order to identify the age when the activities assessed in the individual items are … [Read more]

Necrotizing autoimmune myopathies (NAM) have recently been defined as a distinct group of severe acquired myopathies, characterized by prominent myofiber necrosis without significant muscle inflammation. Because of the lack of appropriate biomarkers, these diseases have been long misdiagnosed as atypical forms of myositis. NAM may be associated with autoantibodies directed against signal recognition particle (SRP) … [Read more]