Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

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.

Laid-Off Newsman with FSHD Starts Second Career

Peter Callas Jr. remembers as if it were yesterday the day his father gave him “the F.D.R. talk.”

It was 1973, and Peter Jr., then 13 years old, had just been diagnosed with facioscapulohumeral muscular dystrophy (FSHD).

MDA Awards Two New FSHD Grants

MDA has awarded two grants for research aimed at determining the precise molecular causes of facioscapulohumeral dystrophy (FSHD), and developing therapies for the disease.

MDA and Friends of FSH Research (FFSHR) based in Kirkland, Wash., will jointly fund a two-year, $200,000 grant to Joel Chamberlain, an assistant professor of medical genetics at the University of Washington in Seattle.

Disrupted Disease Process

A compound that has the potential to be refined and modified into a treatment for type 1 myotonic dystrophy (MMD1, or DM1) has been identified by researchers at the University of Oregon in Eugene, and the University of Rochester (N.Y.) School of Medicine and Dentistry.

FSHD: Abnormal Activation

An MDA-supported team of scientists in the United States and the Netherlands has uncovered new leads about the origins of facioscapulohumeral muscular dystrophy (FSHD), a disease whose biochemical underpinnings have proved elusive to scientists despite years of investigation.

Abnormal Activation

An MDA-supported team of scientists in the United States and the Netherlands has uncovered new leads about the origins of facioscapulohumeral muscular dystrophy (FSHD), a disease whose biochemical underpinnings have proved elusive to scientists despite years of investigation.

Lack of understanding of the mechanisms involved in FSHD has impeded treatment development, a phase of research that generally moves forward after disease mechanisms have been described.

Three-Protein Repair Cluster Identified

Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.




MD Research: Muscle-Repair Booster

In experiments in mice, Michael Rudnicki, an MDA grantee at the Sprott Center for Stem Cell Research at Ottawa Hospital Research Institute (OHRI), and colleagues, found the WNT7a protein stimulates muscle repair by causing proliferation (an increase in number) of "satellite stem cells." They say the protein probably operates similarly in humans. The findings were published June 5, 2009, in the journal Cell Stem Cell.

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