Formed in September 2013, the LGMD2D Foundation is a registered 501(c)3 non-profit foundation built for families living with LGMD2D - both patients and caregivers - by families with the same diagnosis. We, too, saw there was a gap in providing information and resources to those living with this rare disorder. Our mission is to expedite the development of treatments or a cure for Limb-Girdle Muscular Dystrophy, type 2D / R3 (LGMD2D).
In addition to educating patients, researchers and physicians, the foundation:
What is Limb-Girdle Muscular Dystrophy?
Limb-Girdle Muscular Dystrophy (LGMD) is a group of rare muscular disorders that generally first present with weakness in the muscles around the hips and shoulders. There are over 30 genetic sub-types (forms) of LGMD. Although muscle weakness is found in every subtype, there are many differences between the diseases including: age of onset, inheritance patterns, and disease severity.
Limb-girdle muscular dystrophy is separated into two main categories based on the inheritance pattern where:
The letters at the end of the disease name were assigned in alphabetic order as the genetic basis for each disease was discovered.
LGMD2D was the fourth recessive limb-girdle muscular dystrophy to be characterized.
What is LGMD2D?
Limb-Girdle Muscular Dystrophy, type 2D / R3, is caused by mutations in the alpha-sarcoglyan gene that lead to a deficiency of functional alpha-sarcoglycan protein. LGMD2D is believed to be the most common of the LGMD sarcoglycanopathies. Sarcoglycanopathies as a whole comprise of about 15% of all LGMD patients.
LGMD2D causes weakness of muscles in the hip, shoulder, and abdomen. Symptoms often appear before age 10 but, in some cases, do not appear until adulthood. The severity of the disease varies greatly between individuals, even within family members; in some cases, symptoms are mild with no effect on lifespan but, in extreme cases, the disease can be fatal and shorten life expectancy. There are no effects on intelligence or mental function at any age.
Because each type of limb-girdle muscular dystrophy is caused by a different gene type, a genetic test is required. It is very important to diagnose patients genetically because patient care can differ dramatically between sub-types. Additionally, patients cannot generally participate in clinical studies or trials without a complete diagnosis.
To be diagnosed with LGMD2D, a genetic test is required to confirm the presence of mutations in the alpha-sarcoglycan gene. There are several programs in the U.S. that offer free, no-cost genetic testing, including:
Talk with a doctor or genetic counselor to understand which program is right for you.
Your generous donation will help support research to find effective treatments or a cure for LGMD2D.
We are launching an LGMD2D Foundation merchandise store in early 2024! All proceeds will go to research, awareness & advocacy!