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Alpha-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2D (LGMD2D), is an inherited genetic 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. They can range from mild complications that do not affect lifespan to severe symptoms that are fatal by the early 20s.
People with alpha-sarcoglycanopathy commonly develop symptoms before the age of 10, although in some cases, they do not appear until adulthood. Typically the later in life symptoms appear, the less rapidly they will progress. Muscles of the hip, shoulder, and abdomen progressively weaken, although the rate at which they weaken can vary greatly. The muscles may weaken to a point where a wheelchair becomes necessary.
Approximately 20% of people with alpha-sarcoglycanopathy experience a weakening of the heart muscles. Involvement of the heart muscles is less common in alpha-sarcoglycanopathy than in other forms of limb girdle muscular dystrophy.
Alpha-sarcoglycanopathy does not affect intelligence or mental function. The cause of alpha-sarcoglycanopathy is a deficiency in a protein called alpha-sarcoglycan. The function of this protein is not entirely understood. The degree of deficiency in alpha-sarcoglycan may correlate with the severity of disease symptoms.
There are numerous types of limb-girdle muscular dystrophy. The estimated prevalence of all types of limb-girdle muscular dystrophy is 1 in 15,000 individuals. Alpha-sarcoglycanopathy is rare, and its exact incidence is unknown. It is most common in Europe, the United States, and Brazil.
There is no cure for alpha-sarcoglycanopathy 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 that 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 alpha-sarcoglycanopathy varies. 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. Others with a mild course may remain able to walk for 30 years or more after symptoms appear. People with more severe symptoms can become wheelchair bound in their early teens and die in their early 20s. Death is often a result of respiratory failure.
This group organizes Limb Girdle Muscular Dystrophy Awareness Day and aims to increase awareness of the condition globally.