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23 Cards in this Set

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