Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

Paul Topkin

Location

Lakeland, FL

Paul is a multitalented individual who began building models of famous ships in 1990. The HMS Bounty was one of the last ships Paul built before the disease diminished his abilities. Paul recreated the ships’ details after studying their histories and reading their blueprints. Each ship took several months to build. This model, 1/50 of the size of the original British ship, is the 200th piece donated to the MDA Art Collection.

Full name: 
Paul Topkin
Artist: 
Paul Topkin
Medium: 
Wood Model

John Ayers

Location

Middleburg, FL

John began painting on canvas in 1996. For many years, he worked in ceramics and exhibited his work at local fairs and the Northern Florida Ceramic Show. John also volunteered at MDA summer camps, working with the children in ceramics.

Full name: 
John Ayers
Artist: 
John Ayers
Medium: 
Oil

Howard Feigenbaum

Location

Hemet, CA

Howard has been taking photos for more than 30 years. His subjects include abstracts, animals, people, nature, scenes and still lifes. This photograph depicts the brushes his mother, Adele Feigenbaum, used in creating artwork for many years and that still contain colorful traces of paint. Her work, “Balloon Vendor,” was one of the first accepted into the MDA Art Collection when it began in 1992. The brushes are wrapped in the proper fashion that artists use when they are finished working.

Full name: 
Howard Feigenbaum
Artist: 
Howard Feigenbaum
Medium: 
Photograph

Living With

Dear Friends:

I was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) when I was 15 years old and trying to do weight training for the freshman football team. After the shock of learning that I had “muscular dystrophy” subsided, I found that my life really hadn't changed a great deal.

Dr. John Quinlan

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Clinical Trials

About clinical trials

A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.

Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)

Research

In 1990, the genetic defect that underlies facioscapulohumeral muscular dystrophy (FSHD) was located on chromosome 4. Many investigators assumed that one gene would be found that, when flawed, would lead to the development of the symptoms recognized clinically as FSHD. This turned out not to be the case.

Medical Management

Medical treatments for FSHD are relatively few, and none are specific to the disease. There’s no treatment that can halt or reverse the effects of FSHD, but there are treatments and devices to help alleviate many of the symptoms.

Anti-inflammatory drugs known as nonsteroidal anti-inflammatories, or NSAIDs, are often prescribed to improve comfort and mobility. These are the same drugs taken by many people with arthritis and other inflammatory conditions.

Causes/Inheritance

In facioscapulohumeral muscular dystrophy (FSHD), a small section of the DNA on chromosome 4 that’s shorter than usual is inherited in an autosomal dominant pattern, meaning it only takes one such mutation (from one parent) to cause the disorder. This altered piece of DNA also can occur spontaneously in a child as he or she develops in the womb.

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