Blog Archives

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]

  This study investigated the suitability of a caregiver-reported functional measure, the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT), for children and young adults with spinal muscular atrophy (SMA). PEDI-CAT Mobility and Daily Activities domain item banks were administered to 58 caregivers of children and young adults with SMA. Rasch analysis was used to … [Read more]

This cross-sectional study aimed to analyse the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality. The cost of illness (COI) and factors that influence … [Read more]

Cancer can occur in patients with inflammatory myopathies. This association is mainly observed in dermatomyositis, and myositis-specific antibodies have allowed us to delineate patients at an increased risk. Malignancy is also reported in patients with necrotizing autoimmune myopathies, but the risk remains elusive. Anti-signal recognition particle or anti-HMGCR antibodies have been specifically associated with necrotizing … [Read more]

Facioscapulohumeral muscular dystrophy 2 (FSHD2), which is caused by heterozygous mutations in the gene encoding structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), has not been studied in Asian populations. Therefore, it is not known whether this disease mechanism is widely seen. To identify FSHD2 patients with SMCHD1 mutations in the Japanese population, … [Read more]

  This study aimed to identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies. By using autozygosity mapping coupled with next-generation sequencing, the authors investigated a consanguineous family from Lebanon with 1 affected and 2 healthy … [Read more]