Search Results for: fsh
FSHD 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]
An update on good practice in molecular biology for FSHD
Despite substantial advances in its pathophysiology, muscular dystrophy or facioscapulohumeral myopathy (FSHD) remains a complex muscular disease with at least two genes involved. An international consortium has revised the 2012 recommendations on genetic diagnosis:
- the European consortium dedicated to clinical trials in FSH took the lead on this revision following an ENMC workshop devoted to this subject in 2022,
- experts from the United States, India, Japan, Australia, South Africa and Brazil were added,
- the entire consortium took part in six sessions to exchange ideas and compare practices, taking into account new technologies such as molecular combing and opto-genomic mapping,
- diagnostic procedures were standardised for both FSHD1 and FSHD2, including prenatal diagnosis.
This revision was all the more necessary and useful given the growing number of clinical trials in the field of FSHD.
Results of losmapimod and antioxidants in FSHD
New trial results have recently been published for facioscapulohumeral muscular dystrophy (FHSD). For losmapimod, they show that :
- in a phase II trial involving 80 people with FSHD1 aged between 18 and 65, the product slowed the progression of the disease compared with placebo,
- MRI images showed a slowdown in the replacement of muscle cells by fatty tissue in certain muscles,
- patients reported significant clinical improvements with losmapimod (PROM),
- no significant difference was observed in muscle expression of DUX4-regulated genes in losmapimod or placebo (primary endpoint of the trial).
With antioxidants, the results of a trial conducted at Montpellier University Hospital (NCT01596803) showed an improvement in muscle volume and quality, muscle strength and antioxidant response in 10 patients compared with 10 others who received a placebo.
The importance of developing strategies to manage altered facial expression in FSH
Facial impairment is present in 75% of people with facioscapulohumeral muscular dystrophy (FSHD), and represents a significant psychosocial burden for a third. Given this distress, a team of Dutch clinicians looked at the treatments and psychosocial interventions used in FSHD and other pathologies where facial expression is impaired, such as facial paralysis, Moebius syndrome, myotonic … [Read more]
