Limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy, is an inherited disease in which muscles of the hip, abdomen, and shoulder progressively weaken.
Symptoms of the disease vary greatly from person to person, even among people in the same family. LGMD2E is often associated with severe symptoms that can be fatal by the late teens, although some people with the disease have a mild course or are nearly asymptomatic.
People with LGMD2E commonly develop symptoms before the age of 10, although in some cases, symptoms do not appear until later. Typically the later in life symptoms appear, the less rapidly they will progress. In people with LGMD2E, the muscles of the hip, shoulder, and abdomen progressively weaken, often to a point where a wheelchair becomes necessary. This typically happens between the ages of 10 and 15.
In people with LGMD2E, muscles attached to the scapula, a bone that connects the arm with the collar bone, do not work properly, causing a wing-like shape to the upper back. The calf muscles are often enlarged as well, a symptom known as calf hypertrophy.
A minority of people with LGMD2E — about 20% — experience a weakening of the heart muscles. Involvement of the heart muscles is less common in type 2E than in other forms of limb girdle muscular dystrophy.
LGMD2E does not affect intelligence or mental function.
The cause of LGMD2E is a deficiency in a protein called beta-sarcoglycan. The function of this protein is not well understood. The degree of beta-sarcoglycan deficiency may correlate with the severity of disease symptoms.
There are numerous types of limb-girdle muscular dystrophy, and combined worldwide, they occur in 5 to 70 of every 1,000,000 people. LGMD2E is rare, but its exact prevalence is unknown.
There is no cure for LGMD2E and few effective treatments. Physical therapy is often recommended to retain muscle strength and mobility for as long as possible. Stretching, mechanical aids, or surgery may aid in this goal. Those who develop heart problems should consult with a cardiologist for symptomatic treatments. As muscles deteriorate, a ventilator may be required to aid breathing.
The outlook for a person with LGMD2E is varied. Generally speaking, the earlier symptoms begin, the faster they progress. Some people with the disease experience only mild symptoms, and may have near-normal strength. In these cases, the disease may not affect lifespan. In general, many people with the disease live into their 30s. People with more severe symptoms can become wheelchair bound between the ages of 10 and 15 and die in their late teens, often as a result of respiratory failure.
A description of limb-girdle muscular dystrophy written in fairly scientific language. It is, however, an accurate and thorough description of the condition.
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.
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