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Research
Dominant CACNA1S mutations: pure myopathic forms are possible
On 26/07/2024
Dominant mutations of the CACNA1S gene most often cause hypokalemic periodic paralysis or malignant hyperthermia. The team at the Brussels Neuromuscular Reference Centre reports the…
Research
An update on distal hereditary motor neuropathies
On 25/07/2024
This article reviews the various aspects (clinical, genetic, pathophysiological and therapeutic) of this group of heterogeneous inherited diseases characterized by slowly progressive pure distal motor…
Research
A benefit-risk balance against anticholinesterase drugs in anti-MusK myasthenia gravis
On 24/07/2024
Autoimmune myasthenia with anti-MuSK autoantibodies (about 8% of patients) has a unique phenotype, as does its response to treatment, particularly anticholinesterase drugs. The results of…
Research
Positive opinion from the HAS on the national expansion of newborn screening for SMA
On 22/07/2024
AFM-Téléthon is delighted with the positive opinion issued by the French National Authority for Health (HAS) concerning the extension of neonatal screening for spinal muscular…
Research
Targeting the ACVR1 gene or interleukin-1 in fibrodysplasia ossificans progressiva
On 19/07/2024
Two of the therapeutic avenues explored in fibrodysplasia ossificans progressiva (FOP) have been the subject of recent publications: a report of four cases of administration…
Events
ERN EURO-NMD webinar, 23 July : Dr Willeke van Roon-Mom (Netherlands)
On 17/07/2024
Genetic therapies and therapy developments for rare movement disorders Tuesday 23 July 2024 – 15:00 – 16:00 Paris Time Dr. Willeke van Roon-Mom (LUMC, The…
Research
NanoCur: a curcumin derivative being studied in CMT 1A
On 16/07/2024
Curcumin is known to have antioxidant and neuroprotective effects, but it degrades too quickly in the body to make a good drug candidate. NanoCur is…
Research
Classical form of Steinert’s disease: 3 possible different cognitive profiles
On 15/07/2024
Cognitive impairment may occur in the adult-onset form of Steinert disease. This can vary greatly from one person to another. A study from Lille characterised…
Research
Efficacy of long-term quasi-total parenteral nutrition in a young man with Emery-Dreifuss muscular dystrophy
On 12/07/2024
The weight of a 26-year-old man with Emery-Dreifuss muscular dystrophy fell in one year from over 23.8 kg to 22.5 kg, in connection with a…
Research
Characteristics of juvenile myasthenia gravis – Interview with Frédérique Truffaut
On 11/07/2024
Frédérique Truffaut works in the Myasthenia Gravis: etiology, pathophysiology & therapeutic approach team headed by Rozen Le Panse, within the Institute’s Center of Research in…
Research
CHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD
On 05/07/2024
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna…
Research
A probable Finnish founder effect in a form of congenital myasthenic syndrome
On 01/07/2024
Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the…
Research
Respiratory function in SMA patients treated with gene therapy
On 28/06/2024
A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at…
Research
A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA
On 26/06/2024
Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1).…
Research
European recommendations for the treatment of epilepsy in mitochondrial diseases
On 25/06/2024
A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations…
Research
Improved pneumococcal vaccination coverage in inflammatory diseases in the United States
On 25/06/2024
Faced with very low vaccination coverage rates, particularly against pneumococcus, in patients with inflammatory pathologies, American clinicians set up an action plan: the target population…
Research
Normal strength is not essential for a functional hand – Interview with Valérie Decostre
On 24/06/2024
Valérie Decostre is a physiotherapist and researcher at the Neuromuscular Physiology and Evaluation Laboratory, directed by Jean-Yves Hogrel, at the Neuromuscular Investigation Center of the…
Research
Nusinersen does not prevent hip instability in SMA type II
On 24/06/2024
Researchers in Hong Kong investigated the extent to which treatment with intrathecal nusinersen influenced the risk of bilateral hip dislocation, a complication very frequently observed…
Research
Cardiac myosin inhibitor improves skeletal muscle contractility in Laing myopathy
On 24/06/2024
Mavacamten is a small molecule inhibitor of myosin ATPase activity, used in hypertrophic cardiomyopathies, which targets myocardial hypercontractility by reducing the number of myosin heads…
Research
Gait in DMD now easier to analyze in real life
On 21/06/2024
Californian researchers have developed an original, easy-to-use method for measuring gait parameters in young patients with Duchenne muscular dystrophy (DMD): a gyroscope contained in a…