Myology research highlights

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]

Spinraza™ (nusinersen), the first and only treatment for spinal muscular atrophy (SMA), is now available in Europe. Biogen has just announced that it has obtained marketing authorisation for Spinraza™ (nusinersen) in Europe. This is the first drug for the treatment of SMA. Now, every European country will have to evaluate the value of this drug … [Read more]

  Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine … [Read more]

Accelerometric analysis of gait abnormalities in golden retriever muscular dystrophy (GRMD) dogs is of limited sensitivity, and produces highly complex data. The use of discriminant analysis may enable simpler and more sensitive evaluation of treatment benefits in this important preclinical model. Here, the authors describe a new method of 3D accelerometric gait analysis using linear … [Read more]

A team supported by the AFM-Telethon has provided proof-of-concept for the efficacy of a dual gene therapy approach in a mouse model OPMD. Oculopharyngeal muscular dystrophy (OPMD) is due to an abnormal increase in the number of repetitions of a GCG triplet in the PABPN1 gene that disrupts the functioning of the muscle cell. Usually, … [Read more]

  Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterised by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor neuropathy, the authors performed … [Read more]

  Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here, the authors … [Read more]

Congenital myopathies constitute a very heterogeneous set of neuromuscular pathologies. Clinically characterised by very early onset (at birth or in the first months of life), and little or not progressive muscular deficiency, these myopathies are distinguished by more or less specific lesions, visible by microscopy on muscle fragments . Hereditarily, they can be transmitted by … [Read more]