What is Limb-Girdle Muscular Dystrophy?
Limb-girdle muscular dystrophy refers to a group of diseases (not a single disease) which, long before the era of molecular biology and genetic engineering, were lumped together because they shared some common symptoms. The name refers to the fact that the first muscles to show symptoms generally are those around the shoulders and the hips. Beyond that, the different limb-girdle dystrophies show very little in common in terms of inheritance pattern, age of onset, severity of symptoms, prognosis, genetic mutation, or biochemical abnormality in the muscle cells. At the current time, a number of forms of limb-girdle muscular dystrophy have been tracked to specific locations in the human genome. Many of the specific proteins involved have been identified. A diagnosis of limb-girdle muscular dystrophy without specifying the particular type is not really a diagnosis at all. Tests do not yet exist to identify every type of LGMD, but at a minimum a patient can be tested for the forms for which
