Limb-Girdle Muscular Dystrophy

Limb-Girdle Muscular Dystrophy (LGMD) refers to a group of inherited muscle diseases characterized by progressive weakness and wasting of the muscles closest to the body—specifically the shoulder girdle and pelvic girdle (hip) muscles. Over 30 different subtypes have been identified, caused by mutations in different genes that encode proteins essential for muscle function.

The age of onset, rate of progression, and severity vary significantly depending on the specific subtype. Some forms begin in childhood and progress rapidly, while others start in adulthood and progress slowly. Early symptoms typically include difficulty climbing stairs, rising from a seated position, lifting arms above the head, and walking. Some forms may also affect the heart and respiratory muscles.

A characteristic feature is the pattern of weakness, which begins in the proximal muscles (those nearest the trunk) and later may affect the distal muscles (those further from the trunk). Many individuals develop a waddling gait, lordosis (swayback), and may need to use the "Gower's maneuver" (using hands to push up from the floor when rising). Eventually, many affected individuals require mobility aids.

LGMD can be inherited in either autosomal dominant (LGMD1, now called LGMD D) or autosomal recessive (LGMD2, now called LGMD R) patterns. Common autosomal recessive forms are caused by mutations in genes encoding sarcoglycans (SGCA, SGCB) or fukutin-related protein (FKRP). Genetic testing is essential for diagnosis and can guide prognosis and management.

NutraHacker examines the following genes related to Limb-Girdle Muscular Dystrophy:

• SGCA
• SGCB
• FKRP

For more information about your own genetic profile as related to Limb-Girdle Muscular Dystrophy, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.