Blog Archives
A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis
An Italian team assessed the prevalence of myositis-specific or myositis-associated autoantibodies in 233 people aged 57 on average, with fibromyalgia defined by the 2016 criteria and monitored for at least a year, with no clinical sign of any autoimmune disorder. Antinuclear antibodies were found in 24% of cases, antibodies specific to myositis in 9% or … [Read more]
Summer School of Myology: For 25 years, 1,000 medical doctors from all over the world have been training in muscle science and medicine
In 1998, the Institute of Myology, an international center of expertise on muscle, created the Summer School of Myology with the aim of disseminating knowledge and advances in research on neuromuscular diseases, 400 different forms of which have been identified to date, to healthcare professionals. Coordinated by doctors J.A. Urtizberea and Norma B. Romero, this … [Read more]
Juvenile myasthenia is different from adult myasthenia and has a relatively benign course
A review of the literature has enabled Chinese clinicians to carry out a meta-analysis of data from 1,109 patients with juvenile myasthenia published in 11 articles between 2000 and 2022. The disease appeared at an average age of 7.38 years (from one to 18 years), in the form of ocular involvement (ptosis, diplopia, strabismus) in … [Read more]
Risk of myocarditis identified in primates receiving gene therapy for Pompe disease
As part of animal toxicity studies prior to the launch of a gene therapy clinical trial for Pompe disease, researchers at the University of Pennsylvania have reported safety problems. Rhesus macaque primates were given a gene therapy product developed by the Amicus laboratory in increasing doses by the systemic route. The construct included the human … [Read more]
Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
An autosomal dominant hereditary myopathy with, phenotypically, a very marked tremor in the foreground has recently been described and linked to the MYBPC1 gene encoding a myosin-associated protein C. The authors of this ultra-rare disease report another case, but with a different genotype: the patient concerned had mild myopathy but a marked tremor of the … [Read more]
Advances in myasthenia gravis
Myasthenia gravis is a rare disease that manifests as fluctuating muscle weakness and fatigue of varying intensity and duration which can affect any of the voluntary muscles. It is often accompanied by thymus gland irregularities such as hyperplasia and occasionally thymoma. This document, published to coincide with the AFM- Téléthon General Meeting 2023, presents myasthenia … [Read more]
Vitamin and mineral deficiencies in FSH
A study of the nutritional status of 159 patients with facioscapulohumeral myopathy (FSHD), 74 women and 85 men, revealed : a varied and balanced diet, albeit with deficiencies in minerals and vitamins, mainly zinc and vitamins C and E, deficiencies in daily energy and protein intake were also reported, lower intakes of vitamins and minerals … [Read more]
American guidelines for better assessment criteria in the evaluation of myasthenia gravis
The quality, and therefore the reliability, of outcome measures of the severity and/or progression of myasthenia gravis (MG) sometimes it comes up a little short, particularly in the field of clinical trials. This is the observation made by a number of experts at a meeting held in the United States with a view to making … [Read more]
International guidelines for VCP myopathies
Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare: A preliminary analysis of the literature was carried out and distributed … [Read more]
M&M’s – Muscle Monday Seminar – 12 June – Ryan Corces (USA)
Deciphering the role of the noncoding genome in disease June 12th 2023 – 16:00 – 17:00 Ryan Corces (Gladstone Institute of Neurological Disease, University of California San Francisco, USA) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation and the speaker M&M’s – Muscle Monday Seminars are … [Read more]
