Term
| What genetic mutation is the cause of dystrodinopathies? |
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Definition
| Mutation of dystrophin protein |
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Term
| What is the principal symtom of MD? |
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Definition
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Term
| What are the 4 types of MD, distinguished by type of sx, age of onset, and inheritance? |
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Definition
| 1)Duchenne 2)Becker 3)Emery-Dreifuss 4)Fascioscapulohumeral |
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Term
| What is the MC and most severe for of MD? |
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Definition
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Term
| Describe the genetic inheritance of MD. |
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Definition
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Term
| What part of the body does Duchenne MD initially affect? |
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Definition
| Initial involvement of pelvic girdle and progression to shoulder girdle |
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Term
| Describe clinical manifestations of Duchenne MD. |
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Definition
| Muscle weakness of proximal extremities, enlarged calf muscles (fat), lumbar lordosis, waddling gait, contractures of hip, knee, and ankle, and progressive scoliosis |
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Term
| What (+) sign is present in Duchennes MD? |
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Definition
| Gower sign (hand support to push self into upright position) |
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Term
| What does the genetic mutation in Becker MD lead to? |
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Definition
| Reduced amt. of abn. dystrophin protein |
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Term
| What is the difference in the mean age of onset in Becker's MD? |
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Definition
| Later age of onset (5-15yo) and wheelchair bound by age 30. (Duchenne present at birth w/ sx at 3yo and wheelchair bound by 30yo |
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Term
| Describe the genetic inheritance of Facioscapulohumeral MD. |
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Definition
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Term
| What part of the body is affected by Facioscapulohumeral MD? |
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Definition
| Initially affects face, then scapular and upper arm muscles |
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Term
| What is the age of onset in Facioscapulohumeral MD? |
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Definition
| At any age, usu. in 2nd decade |
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Term
| What is the genetic mutation in Emery-Dreifuss MD? |
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Definition
| Mutation of emerin protein |
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Term
| What is the clinical triad present in Emery-Dreifuss Md? |
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Definition
| 1)Early contractures of elbows, ankles, post. cervical mus. 2)Slowly progressive mus. weakness 3)Cardiomyopathy w/ atrial conduction defects |
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Term
| What lab is elevated in MD? |
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Definition
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Term
| what is the diagnostic test (+) in 2/3 of pts w/ MD? |
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Definition
| Leukocyte DNA analysis (PCR) |
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Term
| What med. is used to control sx of Md? |
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Definition
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Term
| Why do pts w/ Duchenne MD often have fractures of their arms and legs? |
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Definition
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Term
| What is the typical cause of death in MD? |
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Definition
| Pulmonary insufficiency (scoliosis) or arrythmias secondary to cardiomyopathy |
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Term
| What is the sole intervention for preventing MD? |
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Definition
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