Myology research highlights

Idiopathic inflammatory myopathies constitute a heterogeneous group of muscular diseases composed, basically, of four major groups: dermatomyositis, overlapping myositis (including anti-synthetase syndrome), inclusion myositis (IBM) and self-necrotizing myopathies. immune. Their diagnosis is based, according to recent international recommendations, on muscle biopsy data and specific auto-antibody assays (MSA for myositis specific auto-antibodies).  In an article published … [Read more]

Hereditary sensory-motor neuropathies type Charcot-Marie-Tooth (or CMT) are clinically and genetically heterogeneous pathologies. Quite common in the general population, they result in a motor deficit of varying severity and scalability in the extremities of the limbs, associated with sensory disorders rarely in the foreground. Almost 110 genes, inherited on autosomal dominant or recessive or X-linked … [Read more]

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) diagnosis is mainly based on the clinical examination and the electromyogram. CIDP is sometimes confused with another demyelinating neuropathy, type 1 Charcot-Marie-Tooth disease. In an article from June 2021, French, Belgian and Swiss neurologists thus identified 35 CMT patients in a cohort of 1,104 CIDP patients, or 3.2%.    Their … [Read more]

The iatrogenic muscle risk (myalgia, myositis, rhabdomyolysis) associated with statins has been known for a long time. In various clinical trials, 1.5% to 5% of patients experienced this type of side effect during treatment with statins. In real life, they are up to 10-15%. This myotoxicity appears to be dose-dependent and vary depending on the … [Read more]

SMA is a degenerative disease of the second motor neuron. Four subtypes exist (from I to IV) depending on the onset of the paralysis and best motor function achieved by the patient. Patients now benefit from three treatment options: repeated intrathecal injections of antisense oligonucleotides (nusinersen or Spinraza®), a single injection of an intravenous gene … [Read more]

Eteplirsen (EXONDYS51®) is the first antisense oligonucleotide to be marketed, by Sarepta Therapeutics, in Duchenne muscular dystrophy, targeting the exon 51 skipping of the DMD gene. Efficacy data for eteplirsen, from the phase III PROMOVI trial, have just been published in the Journal of Neuromuscular Disorders.   Better maintained walking and resistant breathing In this … [Read more]

Hereditary Charcot-Marie-Tooth disease (CMT) type sensorimotor neuropathies are clinically and genetically heterogeneous diseases. They are relatively common in the general population, and result in motor deficit in the extremities varying in severity and speed of progression, combined with sensory disorders that are rarely prominent. Almost 100 genes, of autosomal dominant or recessive inheritance or X-linked … [Read more]

DM1 is a relatively common genetic disease inherited in an autosomal dominant mode. There are several types of DM1 depending on the age of onset: from the congenital form to pauci-symptomatic forms discovered late in adulthood. The muscles, heart, lens, central nervous system and endocrine glands are target organs in this multi-system disease. Respiratory complications … [Read more]

Oculopharyngodistal myopathy (OPDM) is a very rare form of myopathy with a late onset, the clinical phenotype of which shares certain traits with oculopharyngeal muscular dystrophy (OPMD). First described in Japan, OPDM has a higher prevalence in Asia than in the rest of the world. The molecular cause was an enigma until 2019, but has … [Read more]