Limb-Girdle Muscular Dystrophy (LGMD)

Causes/Inheritance

There are at least 19 forms of LGMD, and they’re classified by the genetic flaws that appear to cause them. Some 15 specific genes that lead to production of muscle proteins have been implicated as definite causes of LGMD when they’re flawed. MDA research was behind much of the work that identified these LGMD genes.

Genes, located on chromosomes in each cell in the body, are the codes, or recipes, for production of the body’s various proteins. The genes associated with LGMD normally make proteins necessary for muscle function.

Diagnosis

In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any laboratory tests are done.

The doctor also wants to determine whether the patient’s weakness results from a problem in the muscles themselves (as is the case in muscular dystrophy), or in the muscle-controlling nerves, called motor neurons, that control them.

Signs and Symptoms

Often, people with LGMD first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs.

Limb-Girdle Muscular Dystrophy

Description: 

MDA leads the search for treatments and therapies for limb-girdle muscular dystrophy (LGMD). The Association also provides comprehensive supports and expert clinical care for those living with LGMD.

In this section, you’ll find up-to-date information about limb-girdle muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Caroline Pennell

Location

Chesterfield, VA

Caroline has been painting for several years and received awards at the annual Art adventures local art show for three years. Her favorite activities include working on the computer and spending time with her friends.

Full name: 
Caroline Pennell
Artist: 
Caroline Pennell
Medium: 
Oil Pastels

Jennifer Pattison

Location

Grafton, VA

Jennifer received a bachelor’s degree in graphic design from the Savannah College of Art and Design. She worked as a portrait artist at Busch Gardens in Williamsburg for four years and is employed as a graphic designer.

Full name: 
Jennifer Pattison
Artist: 
Jennifer Pattison
Medium: 
Mixed Media

Margaret Drummond

Location

Cross Roads, TX

Margaret has been painting for 25 years. Her other hobbies include knitting and cooking. Her brother, who also is affected by limb-girdle muscular dystrophy, built the frame for this artwork.

Full name: 
Margaret Drummond
Artist: 
Margaret Drummond
Medium: 
Oil

Jan Blaustone

Location

Nashville, TN

Jan earned a B.A. in English, and has received awards for photography and painting. She also has authored numerous articles and two books, and is a member of the MDA National Task Force on Public Awareness. Jan was named the 2001 MDA National Personal Achievement Award recipient. This painting was created after Jan, herself a former fire fighter, saw a photo taken through a window showing fire fighters working through the rubble at the World Trade Center on Sept. 11. Creating this beautiful artwork helped her with her own healing following the tragic event.

Full name: 
Jan Blaustone
Artist: 
Jan Blaustone
Medium: 
Oil Pastels

David Casner

Location

Cogan Station, PA

David’s hobbies included painting, building model cars and miniature houses, as well as creating decorative metalwork. He was a member of the Bald Eagle Art League.

Full name: 
David Casner
Artist: 
David Casner
Medium: 
Oil

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