Blog Archives

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3′-UTR of the DMPK gene elicits DM1, whereas elongated CCTG repeats in intron 1 of ZNF9/CNBP triggers DM2. Pathogenesis of both disorders is manifested … [Read more]

  Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. This retrospective natural history study, performed in a large cohort of patients with TK2 … [Read more]

  GNE myopathy (also known as hereditary inclusion body myopathy (HIBM)) is an adult-onset muscle disorder characterized by impaired sialylation of (muscle) glycans, detectable by lectin histochemistry. This article describes a standardized method to quantify (lectin-)fluorescence in muscle sections, applicable for diagnosis and response to therapy for GNE myopathy. The results show that Sambucus nigra … [Read more]

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. It is an X-linked recessive disease caused by dystrophin deficiency. With improved medico-surgical management, patients experience increased longevity and, as a result, a higher incidence of cardiac complications. In an article published in 2018, French myologists were interested in the predictive value of … [Read more]

  Recent studies have shown compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have … [Read more]

  Reliable data on the prevalence of skeletal muscle channelopathies is scarce. Here, the authors determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. The minimum point prevalence rates for genetically-defined skeletal muscle channelopathies confirm their rare disease status in the Netherlands. Rates are almost twice … [Read more]

The 6th International Congress of Myology, organized by AFM-Telethon, will take place on 2019, MARCH 25-28, at the Lac Convention Centre in Bordeaux (France).  More than ever, therapeutic innovation will be at the heart of this event in all its aspects: gene therapy, pharmacogenomics, gene surgery and others. The successful research conducted in nerve and … [Read more]

  Patients with Duchenne muscular dystrophy (DMD) gradually lose the ability to stabilize their trunk against gravity. This hinders them to effectively perform different daily activities. In this paper, the authors describe the design, realization and evaluation of a trunk orthosis for these patients that should allow DMD patients to move their trunk and maintain … [Read more]

  Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity. This study describes the outcome … [Read more]