Myology research highlights
RSS feedDMC related to LMNA: on a large-scale retrospective natural history
A retrospective international study coordinated by a team from the Myology Centre for Research at the Institute of Myology was conducted to describe the natural history of an early-onset form of laminopathy: congenital muscular dystrophy linked to the LMNA gene. Thus, data from 151 patients with laminopathy who presented with muscle symptoms that appeared before … [Read more]
The last congress of the FSHD Society took place on June 24 and 25, 2021
Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and clinical trials. The various presentations provided an opportunity to discuss in particular: the development of a new FSH mouse model: it can express very low levels of DUX4 under … [Read more]
Decrease the time from diagnosis to the start of the treatment with Treatabolome
The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the objectives of the European Solve-RD project, which fights diagnostic delay. This platform, better known as the “Treatabolome”, should give clinicians better visibility and knowledge of the treatments available depending on … [Read more]
DMD: start at I-Motion of trials with pamrevlumab in ambulatory and non-ambulatory patients
I-Motion is recruiting patients with Duchenne muscular dystrophy to participate in two pharmacological trials designed to test an antifibrotic monoclonal antibody, pamrevlumab (or FG-3019), developed by FibroGen. The objective of these phase III trials is to assess the tolerance, safety and efficacy on the upper limbs, respiratory and cardiac functions of pamrevlumab administered by intravenous … [Read more]
Muscle imaging is useful in the diagnosis and follow-up of most autoimmune myositis
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]
High phenotypic diversity in patients with CMT linked to a mutation in the MPZ gene?
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]
Clinical and genetic study of 1,000 patients with CIDP reveals 35 cases of misdiagnosed CMT
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]
Hydrophilic statins as toxic to muscle as lipophils
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]
Nusinersen perceptions and expectations in German adults with SMA
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]
Treatment with eteplirsen over a 2-year period shows a beneficial action on walking and breathing in patients with DMD: results of the phase III PROMOVI trial
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]
