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23 Cards in this Set
- Front
- Back
Becker muscular dystrophy
Inheritance pattern |
XLR
Can be spontaneous |
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Becker muscular dystrophy
Clinical presentation |
Milder muscular dystrophy
Patients may walk until 20-25 Cardiac lesions mild |
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Duchenne muscular dystrophy: inheritence pattern and genetic defect
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X linked
Abnormal dystrophin protein loss of membrane stablity |
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Becker muscular dystrophy
Inheritance pattern |
XLR
Can be spontaneous |
|
Becker muscular dystrophy
Clinical presentation |
Milder muscular dystrophy
Patients may walk until 20-25 Cardiac lesions mild |
|
Duchenne muscular dystrophy: inheritence pattern and genetic defect
|
X linked
Abnormal dystrophin protein loss of membrane stablity |
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Duchenne muscular dystrophy presentation
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Pelvic girdle weakness and ataxia w/progressive course
Pseudohypertrophy of calves Children unable to walk by age 10 |
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Complications of duchenne muscular dystrophy
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Myocardial involvement may cause death
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Heterozygous female carriers of duchenne muscular dystrophy
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May have subclinical degeneration of muscle fibers
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Faciocapulohumeral muscular dystrophy inheritence
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AD
Spontaneous mutation common |
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Faciocapulohymeral muscular dystrophy presentation
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Weakness begins in pelvic or shoulder girdle; may retain ambulation for 25y
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Myotonic dystrophy inheritence and genetic defect
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AD or spontaneous
Trinucleotide repeat in protein kinase |
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Myotonic dystrophy clinical presentation
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Weakness, atrophy, myotonia
Head and neck muscles frequently weak and atrophic |
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Myasthenia gravis etiology
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Autoimmune disease; Abs against neuromuscular junction acetylcholine receptors (nicotinic AchR)
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Myasthenia gravis presentation
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Typically young women
Fluctuating weakness but no sensory abnormalities and worsens with increased use |
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Diagnosis of myasthenia gravis
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Decremental respones on EMG or improvement w/edrophonium (AchEI)
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Associations w/myasthenia gravis
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May have thymic abnormalities, including thymoma or thmynic hyperplasia
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Myositis ossificans
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Pain, swelling and tenderness
Ossification at site of traumatic hemorrhage |
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Lambert Eaton Syndrome etiology
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Autoantibodies to presynaptic Ca2+ channels cause decr Ach release
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Lambert Eaton syndrome presentation
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Proximal muscle weakness
Symptoms improve with use No reversal of symptoms with AchEI alone |
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Presentation of mixed connective tissue disease
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Raynaud's phenomenon, arthralgias, myalgias, fatigue, esophageal hypomotility
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Serum markers for mixed CT disease
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Antibodies to U1RNP
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Treatment of mixed CT disease
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Responds to steroids
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