Blog Archives

This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) treated with enzyme replacement therapy from an early age. All participants were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure … [Read more]

Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Three consensus meetings were organised through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness … [Read more]

Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring. Muscle fibrosis impairs blood flow, hampering muscle repair and regeneration. Irrespective of the success of gene restoration, functional improvement is limited without reducing fibrosis. The levels of miR-29c, a known regulator of collagen, are reduced in DMD. The … [Read more]

  Investigation of peripheral neuropathies by magnetic resonance neurography (MRN) may provide increased diagnostic accuracy when performed in combination with diffusion tensor imaging (DTI). The aim of this study was to evaluate DTI in the detection of neuropathic abnormalities in Charcot-Marie-Tooth-type-1A (CMT1A). MR imaging of the sciatic and tibial nerves, including MRN and DTI, was … [Read more]

Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. In this study that was funded by the AFM Téléthon and Trophos SA, the authors investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type … [Read more]

The CRISPR/Cas9 system for eliminating abnormal CTG repeats in DM1 is effective in cellular models. The CRISPR/Cas9 system is a recent approach that cuts DNA at specific locations in the genome, acting like “molecular scissors”. It allows to target a DNA sequence or a gene in a cell to modify, repair or remove it. A … [Read more]

Recent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no consensus has been reached on the most feasible ones. In this longitudinal one‐year study, the authors evaluated … [Read more]

Costello syndrome (CS) is a rare multiple congenital disorder caused by activating germline mutations in HRAS gene and is characterised by coarse facial features, severe feeding difficulties, failure to thrive, mild to severe intellectual disability, severe postnatal growth retardation, cardiac abnormalities or cancer predisposition. Phenotypic spectrum associated with HRAS mutations is broad, ranging from attenuated … [Read more]

In recognition of the changes in the care of patients with spinal muscular atrophy (SMA), it was felt that an update of standards of care (SOC) was needed. A new workshop that comprehensively reviewed the recent literature and took into account experts’ opinions on current standards of care has led to an updated consensus on … [Read more]

Despite corticosteroids being the only treatment documented to improve strength and function in boys with Duchenne muscular dystrophy (DMD) corticosteroid prescription is inconsistent and in some countries, corticosteroids are not prescribed. The authors are conducting a clinical trial that compares the 3 most frequently prescribed corticosteroid regimes, standardises treatment of DMD complications and standardises prevention … [Read more]