Myology research highlights

  In this study, the authors revised the FSHD clinical form to describe the phenotypic spectrum observed in FSHD, based on the 7-year experience of the Italian Clinical Network for FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The CCEF classifies: (1) subjects presenting facial … [Read more]

Cardiomyopathy in Duchenne muscular dystrophy (DMD) is associated with death in approximately 40% of patients. Echocardiography is routinely used to assess left ventricular (LV) function; however, it has limitations in these patients. Here, the authors compared echocardiographic measures of cardiac function assessment to cardiac MRI in children and young adults with DMD. Presence of late … [Read more]

In this study, the diagnostic outcomes of 123 congenital muscular dystrophy (CMD) patients were evaluated using traditional and Next Generation Sequencing (NGS) technologies. Muscle biopsy and immunohistochemical analysis found deficiencies of laminin α2, α-dystroglycan or collagen VI in 50% of patients. Candidate gene sequencing and chromosomal microarray established a genetic diagnosis in 32% (39/123). Of … [Read more]

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII). This case report presents a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary … [Read more]

  Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 … [Read more]

Dystrophin was originally proposed to be a structural protein that protected the sarcolemma from stresses produced during contractions. However, more recently, experimental evidence has revealed a far more complicated picture, with the loss of dystrophin causing dysfunction of multiple muscle signaling pathways, which all contribute to the overall disease pathophysiology. Current gene-based approaches for Duchenne … [Read more]

  Evidence from randomised controlled trials (RCTs) indicates that corticosteroids significantly improve muscle strength and function in boys with Duchenne muscular dystrophy (DMD) in the short term (six months), and strength at two years (two-year data on function are very limited). Corticosteroids, now part of care recommendations for DMD, are largely in routine use, although … [Read more]

  The correlation and the prognostic impact of respiratory and heart impairment in type 2C and 2D limb girdle muscular dystrophies (LGMD) are poorly described. This study aimed to describe the long-term cardiac and respiratory follow-up of LGMD patients and to determine predictive factors of cardio-respiratory events and mortality in LGMD 2C and 2D. The … [Read more]

  Muscle-specific kinase (MuSK) myasthenia gravis (MG) is hallmarked by the predominant involvement of bulbar muscles and muscle atrophy. This might mimic amyotrophic lateral sclerosis (ALS) presenting with bulbar weakness. Here, the authors analysed the clinical data of four cases of MuSK MG patients with an initial misdiagnosis of ALS and investigated the presence of … [Read more]

  Five families with proband children affected by spinal muscular atrophy (SMA) were recruited from November 2014 to March 2015. Deletions of exon 7 and exon 8 in SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA). Parental and fetal haplotypes were obtained. Results from the haplotype based testing were compared to MLPA, the … [Read more]