Blog Archives
Adenylosuccinic acid therapy improves mdx mice
Arising from the ablation of the cytoskeletal protein dystrophin, Duchenne Muscular Dystrophy (DMD) is a debilitating and fatal skeletal muscle wasting disease underpinned by metabolic insufficiency. The inability to facilitate adequate energy production may impede calcium (Ca2+) buffering within, and the regenerative capacity of, dystrophic muscle. Therefore, increasing the metabogenic potential could represent an effective … [Read more]
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. Diagnosis relies on needle electromyography showing electrical silence, muscle biopsy with decreased sarcoplasmic reticulum calcium adenosine triphosphatase activity, and genetic analysis. Electrodiagnostic functional analyses are useful in the diagnosis of channelopathies, … [Read more]
Clinical, morphological and genetic characterization of Brody disease
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after the initial case presentation, only 18 patients have been reported and many questions regarding the clinical phenotype and results of ancillary investigations remain unanswered, likely leading to incomplete recognition and consequently under-diagnosis. … [Read more]
ERN EURO-NMD bursary scheme
The next round of bursary applications is now open, two grants of 500 € each to attend a scientific meeting in the neuromuscular field are available. This scheme, which is to ensure equity of care for patients with rare neuromuscular diseases across Europe, aims to boost Training and Continuous Education Programmes. The bursary scheme is … [Read more]
Institute seminar – 16 March – Hélène Duez, PhD (France) – POSTPONED
This seminar is postponed. Role of the circadian biological clock in muscle physiology Monday 16 March 2020 – 12:00-13:00 Hélène Duez, PhD (Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1011- EGID, F-59000 Lille, France) Hosted by : Gisèle Bonne Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 … [Read more]
Development of MyoQuad to evaluate quadriceps strength – Interview with J.-Y. Hogrel
Jean-Yves Hogrel, Head of the Physiology and Neuromuscular Evaluation Laboratory, Damien Bachasson of the same laboratory, and Olivier Benveniste of the Inflammatory Muscle and Innovative Therapies team at the Myology Research Centre, have just published an article* relating to the validation of the MyoQuad device among patients with inclusion body myositis, a tool created and … [Read more]
Why, how and when to stop ERT in adult Pompe disease?
Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed. The authors evaluated decision making in adult patients in relation to the European POmpe Consortium stop criteria. Of 125 adult Pompe patients, 111 started treatment; … [Read more]
Pompe disease: even with very early treatment, the risk of upper airway abnormalities remains
Early enzyme replacement therapy (ERT) improve long-term outcomes in patients with infantile-onset Pompe disease (IOPD). In this study, the cohort of patients with IOPD at Taipei Veterans General Hospital (TVGH) joined Taiwan Pompe newborn screening program from 2008, testing more than one million newborns until 2018. By 2010, the authors had established rapid diagnostic strategies. … [Read more]
Pompe disease: a U.S. study recommends increasing the unit dose of enzyme replacement therapy in some cases
Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease. The authors conducted a retrospective study on infantile-onset Pompe disease (IPD) and late-onset Pompe disease (LOPD) patients with onset before age 5 years, ≥12 months … [Read more]
Drug-induced myopathies: beware of the toxic effects of immune control point inhibitors
Drug-induced myopathy is among the most common causes of muscle disease. An association has recently been described between programmed death-1 (PD-1)/PD-1 ligand (PD-L1) inhibitors and immune-related adverse events (irAE) affecting the muscle. Here, the authors report the clinical and pathological findings of nine unrelated patients with PD-1 and PD-L1 inhibitors-associated myopathy. They retrospectively analyzed 317 … [Read more]
