Facioscapulohumeral muscular dystrophy
RSS feedOverview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for 16% of them and the need, for 25%, to adapt the way they eat to get round these problems, constipation, bladder problems, abdominal pain, etc. … [Read more]
FSHD: searching for the ideal biomarker
British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD): in view of the disappointing and/or contradictory results of studies of DUX4 gene expression in FSHD myopathy, the researchers focused their attention on genes repressed by PAX7, another gene involved in myogenesis and also interacting with DUX4, … [Read more]
New tools for assessing the follow-up of two forms of muscular dystrophy
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use of functional scores: researchers report, in association with Duchenne muscular dystrophy (DMD) patient associations, the development of an upper limb function scale centred on the needs and feelings of patients … [Read more]
