LGMD Information

The Basics

LGMD stands for “Limb Girdle Muscular Dystrophy.” The name comes from the fact that the disease causes muscle weakness in the hips (the pelvic girdle region) and shoulders (the shoulder girdle region). However, some LGMDs can cause weakness that starts primarily in the lower part of the limbs.

Symptoms of LGMDs overlap with other hereditary muscle-wasting conditions such as Pompe, FSHD (Facioscapulohumeral muscular dystrophy) and HIBM (Hereditary inclusion body myopathies). Patients are often mis-diagnosed or mis-classified. Many of the facts listed below about LGMDs apply to these closely related diseases. Advocacy groups representing these diseases are collaborating with LGMD advocacy organizations in this scholarship program to help raise awareness in general about hereditary muscle disorders.

LGMDs are genetic diseases, which means that people are born with them. You cannot catch the disease from spending time with someone who has one of these conditions.

There are over 30 different types of LGMD, each caused by mutations in a different gene. There are dominant forms of LGMD where a single mutation on one chromosome causes disease.

Dominant LGMDs can run in families because parents with the mutation have a 50% chance of passing it on to their children. There are also recessive LGMDs where individuals need mutations in the same gene on both of their chromosomes to develop the disease. People who have mutations in one copy of a recessive LGMD are called "carriers" because although they don't have any symptoms of the disease, they can pass it on to their children if their partner also has a mutation in the same gene.

Early Symptoms

LGMDs can affect anyone and the symptoms might not appear until early adulthood or even later. In fact, some people with LGMDs may actually appear stronger than their peers when they are young.

The first symptoms can vary depending on which LGMD a person has, but there are some activities that people with LGMDs commonly lose the ability to do early on.

  1. Standing on toes - not being able to stand on your toes can be an early symptom of some muscular dystrophies.
  2. People with LGMDs lose the ability to go from sitting on the ground to standing without using their arms to help them.

Late-Stage Symptoms

Individuals with LGMD eventually lose the ability to walk and become completely reliant on wheelchairs.

Everyday tasks like putting on a shirt and lifting a cup of coffee to take a drink can become nearly impossible for people with advanced muscular dystrophies to do on their own. Even rolling over in bed can become difficult or impossible.

Some LGMDs can also cause breathing or heart issues.

Diagnosis

Muscular dystrophies are often confused with one another and other diseases with similar symptoms like Pompe, FSHD (Facioscapulohumeral muscular dystrophy) and HIBM (Hereditary inclusion body myopathies).

Because LGMDs look very similar in clinical tests, genetic testing is required. If you or anyone you know has unexplained muscle weakness, anyone can apply for free genetic sequencing at lgmd-diagnosis.org

The more people who know about LGMDs and other muscle-wasting diseases, the easier they will be to diagnose. To that end, LGMD Awareness Day is celebrated annually on September 30th to help spread awareness of these rare diseases.

Treatment

There are currently no drugs proven to help LGMD patients. Studies have suggested that steroids like prednisone may help LGMD2I patients. Other studies have shown that steroids can actually harm LGMD2B patients. Consequently, a full genetic diagnosis is essential for all patients thought to have some form of LGMD.

What's it like to live with an LGMD?

Watch a video of Yumi describing how she was diagnosed and how she is still living life to the fullest

Watch a video of Bliss talking about what it's like to live with LGMD2B

Watch John Graybill II describe his experiences with LGMD2A