[The Second Baltic School of Neuromyology]. / La deuxième École Balte de Neuromyologie.

The second edition of the Baltic School of Neuromyology took place on August 26-27, 2022 in Riga (Latvia), in a somewhat peculiar atmosphere given the international situation. An opportunity for the authors to measure the accomplishments made by their Baltic counterparts in the diagnosis and management of neuromuscular disorders, a successful although challenging venture, which led to the integration of three Baltic neuromuscular reference centers to the European Reference Network Euro-NMD. Beyond this form of consecration, and even though a lot remains to be achieved, notably in the field of muscle histopathology, various Baltic teams showed truly remarkable pieces of clinical research that will be useful to the whole myology community worldwide.

Title: La deuxième École Balte de Neuromyologie. Abstract: La deuxième édition de l'École Balte de Neuromyologie s'est tenue du 26 au 27 août 2022 à Riga (Lettonie) dans une ambiance un peu particulière étant donné la situation internationale. Ce fut l'occasion pour les auteurs de mesurer le chemin parcouru par leurs homologues baltes tant dans le domaine du diagnostic que celui de la prise en charge des maladies neuromusculaires. Cette entreprise difficile mais couronnée de succès a conduit à l'intégration de trois centres de référence neuromusculaire baltes au sein de l'ERN (réseau européen des maladies rares) Euro-NMD. Au-delà de cette forme de consécration, et même si beaucoup reste à faire, au niveau de l'histopathologie musculaire notamment, les différentes équipes baltes ont présenté des travaux de recherche clinique tout à fait remarquables et utiles à l'ensemble de la communauté myologique.

[Titin-related muscle disorders: an expanding spectrum]. / Pathologies musculaires liées à la titine - Un domaine en émergence.

Titin-related diseases of the skeletal and cardiac muscles open a new, fruitful chapter of myology. Confined for a long time to a limited number of clinical entities, the phenotypic spectrum of titinopthies is nowadays expanding rapidly together with the discovery of many pathogenic mutations of the TTN gene. Like for many genes of large size, the fine tuning and use of high-throughput sequencing (NGS) constitutes a little revolution in the field. This powerful tool allows, although with real technical hurdles, the establishment of the definite diagnosis of titinopathy. A better knowledge of the natural history of each subtype of titinopathy enables as of now an optimized management of patients, notably when a cardiac or respiratory risk factor is identified. Research efforts in the titin-related conditions are gradually getting organized. Interactions between clinicians and geneticists are an absolute necessity. The still fragmentary knowledge of the pathogenesis of each titinopathy prevents to date to figure out any curative therapy in the very near future.

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011.

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement. In general, FSHD typically presents before age 20 years. Usually, FSHD muscle involvement starts in the face and then progresses to the shoulder girdle, the humeral muscles and the abdominal muscles, and then the anterolateral compartment of the leg. Disease severity is highly variable and progression is very slow. About 20% of FSHD patients become wheelchair-bound. Lifespan is not shortened. The diagnosis of FSHD is based on a genetic test by which a deletion of 3.3kb DNA repeats (named D4Z4 and mapping to the subtelomeric region of chromosome 4q35) is identified. The progressive pattern of FSHD requires that the severity of symptoms as well as their physical, social and psychological impact be evaluated on a regular basis. A yearly assessment is recommended. Multidisciplinary management of FSHD--consisting of a combination of genetic counselling, functional assessment, an assessment by a physical therapist, prescription of symptomatic therapies and prevention of known complications of this disease--is required. Prescription of physical therapy sessions and orthopedic appliances are to be adapted to the patient's deficiencies and contractures.

Clinical and pathological features in 15 Chinese patients with calpainopathy.

BACKGROUND: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium-activated, neutral protease (calpain-3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features. METHODS: Sixty-six muscle biopsies were selected for combined Western blotting of dysferlin and calpain-3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined. RESULTS: The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%). CONCLUSIONS: Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non-Chinese patients.