MDA leads the search for treatments and therapies for facioscapulohumeral muscular dystrophy (FSHD). The Association also provides comprehensive supports and expert clinical care for those living with FSHD.
In this section, you’ll find up-to-date information about facioscapulohumeral muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.
Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.
Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.
Little by little, the molecular underpinnings of facioscapulohumeral muscular dystrophy (FSHD) are yielding to scientific investigations. The latest revelations about a protein known as DUX4, announced in October, could bring a treatment for FSHD closer to the clinic.
A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.
Facioscapulohumeral muscular dystrophy (FSHD) requires the presence of not one but two genetic changes, both on chromosome 4, before it causes its characteristic symptoms — weakness starting in the muscles of the face, shoulder blade area and upper arms, with possible progression to other parts of the body.
The new findings, announced online Aug. 19, 2010, in the journal Science, have immediate implications for diagnosis and prediction of FSHD, and possible long-term implications for its treatment.