Free Diagnostic Tool to Help Physicians Identify Limb Girdle Muscular Dystrophy Subtypes
Limb girdle muscular dystrophies (LGMD) are a group of inherited muscular dystrophies that generally affect the pelvic and shoulder girdles. There are over 20 types of LGMD identified; each with its own gene mutation. Each LGMD has specific features (i.e., age of onset, rate of progression, muscles affected, and heart or respiratory involvement) that can help identify each subtype but due to the rarity of the conditions, the large number of genes involved, and the variable clinical presentation, identifying the specific type of LGMD of a particular patient can be challenging.
To assist physicians who suspect a LGMD or other muscular dystrophy in a patient, the non-profit organization LGMD-diagnosis.org is providing a free diagnostic program for physicians. A diagnostic tool for patients is also available.
The video below provides an overview of how the program works. For more information about the physician portal, click here.
Physicians can use the results from ALDA reports to apply for free genetic sequencing as well.
The program is sponsored by a consortium of LGMD family foundations who work on rare muscle diseases caused by mutations in a large number of different genes. By pooling their resources, the foundations will identify a significant number of patients that can be helped by the efforts of each foundation. The sponsors
include: Cecil B Day Family, Inc (LGMD2B); Coalition to Cure Calpain 3 (LGMD2A); Jain Foundation (LGMD2B); Kurt + Peter Foundation (LGMD2C); LGMD2D Foundation; LGMD2I Fund; and McColl-Lockwood Laboratory (LGMD2I).
Plavi Mittal, President of the Jain Foundation said
“LGMD-diagnosis.org was launched in September as a program that allowed patients with undiagnosed muscle diseases to apply for free diagnostic sequencing without needing a physician to order tests. The program has been a big success and many physicians contacted us asking to apply for the program directly. We are excited to launch the physician portal so that even more individuals can obtain a definitive genetic diagnosis.”
ALDA is freely available at www.jain-foundation.org/alda/
in English, Spanish, Portuguese, Russian, Czech, and Ukrainian.
Video provided by the Jain foundation.