The Condition
Limb-Girdle Muscular Dystrophy — known as LGMD — is not a single disease. It’s a family of more than 30 rare genetic conditions, each caused by a mutation in a different gene, all sharing the same devastating effect: the progressive weakening and wasting of the muscles around the hips and shoulders.
It affects men and women equally, and can appear at any age — from childhood through to adulthood. In some people it progresses slowly; in others, the loss of mobility comes quickly. There is currently no FDA-approved treatment for any subtype of LGMD.
How it Presents
Because LGMD affects the muscles of the shoulder and hip girdle — the proximal muscles closest to the body’s centre — many of the first signs appear in movement. Climbing stairs, lifting arms above the head, getting up from a chair. Things most people do without thinking.
Progressive muscle weakness
Weakness typically begins in the hips and shoulders and may spread over time to affect other muscle groups, including those needed for breathing and heart function.
Variable onset and progression
Symptoms most commonly appear before the age of 30, but the rate of progression varies enormously — even among members of the same family carrying the same genetic mutation.
The research landscape
The science is moving. Gene therapy trials are underway for several LGMD subtypes, and for the first time, regulatory pathways to approval are being seriously explored. But the road is long, and funding is the fuel.
This is why we exist. Every dollar raised goes toward the research that gives LGMD families something to hold onto — hope, grounded in science.