Facioscapulohumeral muscular dystrophy
RSS feedThere are many lessons to be learned from the national registry dedicated to FSHD
The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations of the disease: from the 953 patient files recorded in the database, the authors identified 306 atypical cases, or 19.6% depending on the case, these could be clinical or biological … [Read more]
Phase I study suggests safety and efficacy of growth hormone and testosterone combination therapy in FSHD
In the Phase I study called STARFISH, researchers at the University of Rochester evaluated the safety and potential efficacy of a combination treatment of recombinant human growth hormone (rHGH) and testosterone in 20 adult men with facioscapulohumeral muscular dystrophy (FSHD). The 19 participants who completed the study did not experience any serious adverse effects. After … [Read more]
Only part of the D4Z4 region is necessary for epigenetic repression of DUX4
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the abnormal and delayed expression of a transcription factor called DUX4, which has a deleterious effect on adult muscle fibers. American and Dutch researchers have precisely characterized the D4Z4 region where the DUX4 gene is located: several fragments of the region of interest (D4Z4) were then studied in … [Read more]
Results of a trial of creatine monohydrate in a paediatric population with FSHD
A randomised, double-blind, placebo-controlled trial was conducted in 13 children with facioscapulohumeral muscular dystrophy (FSHD) who received either creatine monohydrate or a placebo in a crossover design over two 12-week periods, separated by a 6-week treatment-free period. Eleven participants completed the trial. No significant difference between creatine monohydrate and placebo was observed on the MFM-32 … [Read more]
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]
