Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

Facioscapulohumeral Muscular Dystrophy

Description: 

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.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Researchers Exploring Disability Perceptions

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.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

MDA Conference Brings Together Researchers, Clinicians, Industry

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.

Early-Life Protein, Made Too Late, Causes Trouble in FSHD

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.

About recent FSHD research

Race, Cardiomyopathy Shorten Life Span in MD

A new study reported by the Centers for Disease Control and Prevention (CDC) shows that survival time has significantly increased for certain categories of people with muscular dystrophy (MD) but that race and cardiac status have a large impact on survival.

Study Seeks People With Uncertain MD Diagnoses

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.

Not One But Two DNA Changes Are Needed to Cause FSHD

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.

Big Waves, Big Attitude

“Even though I struggle to put a hat on my head or walk up a staircase, I can still operate in 40- to 60-foot waves and provide a service that may save someone’s life.”

Ryan Levinson, 38, lives life to the fullest, and he’s not going to let a disease like facioscapulohumeral muscular dystrophy (FSH) deter him.

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