Facioscapulohumeral muscular dystrophy
RSS feedFSHD combined with genuine myositis: an intriguing association
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by molecular biology, and secondly, myositis authenticated by the presence of specific autoantibodies, of the 5 cases of this type identified in the myositis database of … [Read more]
Atypical cases of FSHD type 1 sometimes conceal another condition
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) followed at their centre: the vast majority had a phenotype and genotype classified as classic, a small group, reduced to 27, showed clinical atypia, additional studies (whole exome, mitochondrial … [Read more]
The difficulty of interpreting SMCHD1 gene variants in FSHD
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update on a rarer form of FSHD type 2 linked to the SMCHD1 gene: the sequencing data and methylation studies of 54 FSHD1-negative patients were collected and analysed, all patients had … [Read more]
Registry data to evaluate respiratory function in FSHD
American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular dystrophy (FSHD) : all ventilatory parameters of patients in the registry were compiled and analysed over a period from 2008 to 2016, only 20% of the 170 patients identified in … [Read more]
A natural history of FSHD established after five years of observation
Dutch researchers have designed a follow-up protocol for patients suffering from facioscapulohumeral muscular dystrophy (FSHD) in order to gain a better understanding of the natural history of this disease: 154 symptomatic patients confirmed by molecular biology were included in the study, the median age of the cohort was 51 years, a battery of tests and … [Read more]
Methylation studies to help with the molecular diagnosis of FSHD
The Italian consortium dedicated to facioscapulohumeral muscular dystrophy (FSHD) reports on its experience in integrating methylation studies into the routine diagnosis of this myopathy with an excessively complex pathophysiology: 218 patients with or suspected of having FSHD were included in the study, in addition to measuring the number of D4Z4 repeats and 4qA/B haplotyping, methylation … [Read more]
A case of immune-mediated necrotizing myopathy mimicking FSHD
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered from a progressive asymmetric muscle deficit that had appeared three years previously, with associated facial weakness, treatment with statins had been started following a stroke which had resulted in paresis … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
Losmapimod fails in facioscapulohumeral myopathy
The initial results of the REACH Phase III placebo-controlled trial evaluating losmapimod in 260 adults with FSHD1 or FSHD2 over one year have just been announced by the Fulcrum Therapeutics laboratory in charge of its development, and they’re not good. Losmapimod failed to meet the trial’s main endpoint, namely to improve measurement of the relative … [Read more]
PNDS recommendations on FHSD published internationally
The National Diagnostic and Care Protocol (PNDS) for facioscapulohumeral muscular dystrophy (FSHD) was published in France at the very end of 2021. A recent article published in the Journal of Neurology takes up the main points, focusing in particular on : the diagnosis, which is sometimes complex for clinical and/or genetic reasons, with the publication … [Read more]
