Rare Disease Spotlight
The Search for Inclusion-Body Myositis Treatment
Inclusion-body myositis (IBM) is one of the most common disabling inflammatory myopathies in older adults, but its underlying cause is poorly understood.IBM is characterized by progressive muscle weakness and wasting. In patients with the disease, inflammatory cells invade muscle tissue and collect between the muscle fibers. Muscle biopsies of patients diagnosed with IBM reveal multiple “inclusion bodies” containing cellular material of dead tissue.
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The Expanding Therapeutic Landscape for Myasthenia Gravis
Myasthenia gravis (MG) is an autoimmune disease that leads to muscle weakness. It affects about 14 to 20 out of every 100,000 people. The age of onset varies widely, but typically it is diagnosed in women in their 20s and 30s and men in their 60s or later. In about 10% to 15% of cases, MG begins in childhood.
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Pompe Disease Treatment Is Moving Forward
Pompe disease (also called acid maltase deficiency) is a rare, inherited glycogen storage disease that affects the muscles, particularly the heart and skeletal muscles. It results from mutations in a gene that carries instructions to make the enzyme acid alpha-glucosidase (GAA), also called acid maltase, which plays a role in the body’s ability to process and break down complex sugars (glycogen). With insufficient GAA, glycogen builds up in and damages muscle cells.
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News on LEMS Treatment and Research
In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle — the neuromuscular junction — and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. With fewer calcium channels, the nerve endings release less acetylcholine. With low levels of acetylcholine, muscles do not contract normally, resulting in muscle weakness.
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