Myology research highlights

Diagnosis of muscular dystrophies is currently based on invasive methods requiring muscle biopsies or blood tests. The aim of the present study was to identify urinary biomarkers as a diagnostic tool for muscular dystrophies. Here, the urinary proteomes of Duchenne muscular dystrophy (DMD) patients and healthy donors were compared with a bottom-up proteomic approach. Label-free … [Read more]

Array Comparative Genomic Hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indication of referral, namely incidental findings. The incidental finding of CNVs located in X-linked genes in girls … [Read more]

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of disease progression and therapy efficacy. In this study, the authors performed quantitative real-time polymerase chain reaction on skin biopsies of … [Read more]

Spinal muscular atrophy (SMA) is characterised by loss of motor neurons in the spinal cord that results in muscle denervation and profound weakness in affected patients. Here, the authors sought evidence for primary muscle involvement in the disease during human development by analyzing the expression of several muscle cytoskeletal components (i.e. slow, fast, and developmental … [Read more]

This study aimed to characterise the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. The authors created a national register for SBMA in the United Kingdom and recruited … [Read more]

A phase I, single-site, dose escalation study to evaluate the safety and efficacy of gene transfer therapy in infants with for Spinal Muscular Atrophy Type 1 (SMA1) who are 9 months old or younger has opened at Nationwide Children’s Hospital in Columbus, Ohio. A total of nine patients will be randomly assigned to receive either … [Read more]

This study aimed to clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. The authors screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, … [Read more]

Necrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identified autoantibodies (aAb) against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with NAM, especially in statin-exposed patients. Here, the authors report what is to their knowledge, the first European cohort of patients with … [Read more]

Steroids are nowadays routinely used as a long-term treatment in Duchenne muscular dystrophy (DMD). Their effects on body composition were assessed using dual X-ray absorptiometry. This study followed over 2 years 29 genetically confirmed DMD patients: 21 in the steroid-treated group and 8 in the steroid-naïve group. After 2 years of steroid treatment, the lean … [Read more]

Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined … [Read more]