Blog Archives

Evidence is accumulating that demonstrates a continued interaction between the immune system and skeletal muscle in inflammatory diseases of different pathogenic origins, in dystrophic conditions such as Duchenne muscular dystrophy as well as during normal muscle regeneration. Although a component of innate immunity, the macrophage, has been studied extensively both under pathological conditions and in … [Read more]

The objective was here to describe a large series of patients with α, β and γ sarcoglycanopathies (LGMD-R3, R4 and R5 in the new nomenclature) and to study the phenotypic correlations and the progression of the disease. In this context, a retrospective multicenter study in 4 centers in the region of Paris collecting neuromuscular, respiratory, … [Read more]

The review on oculopharyngeal muscular dystrophy which involved researchers and clinicians from the institute has just been updated in October 2020 on the GeneReviews website. Clinical features Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and those of the pharynx, … [Read more]

Neuromuscular diseases are very diverse in their presentation and clinical expressions. Swallowing disorders occur in some of them predominantly, for example Duchenne muscular dystrophy (DMD), Steinert’s disease (DM1), amyotrophic lateral sclerosis (ALS), oculopharyngeal muscular dystrophy (OPMD)… These disorders can be the cause of very disabling situations. Dysphagia is classically explorable either by fluoroscopy or through … [Read more]

Tools intended to measure, as objectively as possible, motor strength and/or function in patients with neuromuscular diseases have proliferated in the last few years, especially in the context of innovative therapies appearing on the market. Motor function measure (MFM) is a scale that was developed by a Lyon-based team, and that has gradually established itself … [Read more]

Sporadic inclusion myositis, an autoimmune disease, is the most common inflammatory myopathy after the age of 50. It results in slowly progressive muscle weakness, proximal (especially quadriceps) and distal (flexors of the fingers in particular). Muscle biopsy shows mixed, inflammatory and degenerative lesions. Publications had already mentioned, on histological and neurophysiological arguments, the possibility of … [Read more]

The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each year. A Canadian team used it to conduct a retrospective cohort study (2005 – 2015) of nearly 10 million deliveries, including 974 women with myasthenia gravis. This disease of the … [Read more]

Pompe disease is linked to mutations in the GAA gene, which encodes an enzyme involved in the degradation of glycogen into glucose. It results in overload myopathy and, very often, restrictive respiratory failure. So far, mouse models developed in the laboratory by inactivating the GAA gene show only a moderate disease phenotype, with relatively spared … [Read more]

The European OPTIMISTIC trial showed, in 231 patients with Steinert’s disease ( DM1) suffering from severe chronic fatigue, that people who received cognitive behavioral therapy (CBT) for 10 months are more active during the day (DM1-Activ-c scale, activity monitor, 6-minute walk test, etc.) with better social participation and a reduced level of fatigue and drowsiness. … [Read more]

Facio-scapulo-humeral myopathy (FSH) is a genetic disorder that affects about 3,000 persons in France, it is one of the most common muscular dystrophies in adults. There are two types (FSHD1 in 95% of cases, and FSHD2) genetically distinct but both due to the aberrant expression of the DUX4 gene, toxic to skeletal muscle. Selective muscle … [Read more]