Term
| Duchenne/Becker Muscular Dystrophy |
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Definition
| greatlyy reduced dystrophin. sex-linked. severe progressive degeneration of muscles. |
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Term
| Becker Muscular Dystrophy |
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Definition
| decreased amount of dystrophin. sex-linked. mild and progressive degeneration of muscles. usually appears in later years. |
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Term
| Protein encoded by dystrophin gene |
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Definition
| a hshort arm (p) in region 2 at band 1 of X chromosome (Xp21). Dystrophin is found at the inner side of the sarcolemma. |
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Term
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Definition
| Links subsarcommal cytoskeleton to the exterior of the cell through the transmembrane complex of proteins that bind to laminin. Supports carsolemma against mechaincal stress and stabilizes it in the course of contraction -relaxation cycle. Regulates Ca2+. Prevents excessive ROS. |
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Term
| Dystrophin-associated glycoproteins |
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Definition
| Lack or absence of dystrophin: 1)secondary loss of sarcoglycans 2) increased susceptibility of muscle fiber to injury. |
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Term
| Characteristic of dystrophic muscles |
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Definition
| lack of dystrophin, continuous effort at repair and regneration with necrosis of muscle fibers; progressive fibrosis, infiltration of muscle with fatty tissues. |
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Term
| How is dystrophic muscle damaged? |
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Definition
| mechanical weakness of sarcolemmal membrane. abnormal Ca2+ influx through damaged sarcolemmal membrane, resulting abnormal cell signaling & damage. more damage to eccentric contraction. |
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Term
| Clinical features of Duchenne Muscular dystrophy |
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Definition
| muscle weakness by 3-4. wheel-chair bound by age 10. bedridden by age 15. myocardial weakness develops. anemia. mental retardation. blood CK high. common cause of death: respiratory insufficiency at lat teens and early 20s. |
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Term
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Definition
| lordotic, enlargement of calves (pseudohypertrophy), winging of scapulae. |
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Term
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Definition
| no specific treatment for any form of MD. cell therapy in experimental stage using animal models. myoblasts from normal animals injected intramuscularly. |
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Term
| Adult type Myotonic Dystrophy (MD1) basic info |
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Definition
| most common form of adult muscular dystrophy. myotonia. abnormal trinucleotide-repeat on 3'-untranslated region of gene at 19q13.3 which encodes myotonin protein kinase. Normal repeat:5-34. 100-1000 in adult type. |
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Term
| T/F. There is too much shit to know for this class? |
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Definition
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