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30 Cards in this Set
- Front
- Back
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SMI type I: Werdnign Hoffman disease - mutation? What does it look like?
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SMN1, Chr 5; panfasicular atrophy - type 1 giant, type 2 atrophy
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type 2 atropy may reflect what?
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disuse of muscles from illness, glucocorticoids, hypercortisol
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what does myopathic disease look like?
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fibers shrink
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what does neuropathic disease look like?
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predominantly 1 fiber type
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patho of myasthenia
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autoAbs against nicotinic ACh receptors @ post synaptic side
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presentation of myasthenia
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slurred speech, heavy head, trouble swallowing, double vision
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patho of Lambert Eaton
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autoAb against presynaptic Ca2+ channels
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presentation of Lambert Eaton
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difficulting ascending stairs, metallic taste, cirgarettes, reflexes hard to elicit
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what is Lambert Eaton assoc w/?
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paraneoplastic syn - small cell lung cancer
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presentation of Duchene's
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delayed ambulation, toe walking, calf pseudo-hypertrophy, prox hip girdle weakness
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what does dystropin do
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connect intracellular contractile apparatus w/ ECM
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death from Duchene's d/t what?
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respiratory insufficiency or cardiomyopathy
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patho of Limb Girdle disease
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sarcoglycans missing, TRIM3
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role of sarcoglycans?
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link b/t F-actin cytoskeleton + ECM
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TRIM32 role
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E3 ubiquiton ligase - disrupt equilbrium of myofiber proteins
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patho myotonic MD
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CUG repeat in dystrophia myotonia protein kinase (DMPK) --> inhibit RNA splicing enzymes
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rold of MBNL?
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regulates mRNA splicing
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presentaion of myotonic MD?
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sustained muscle contraction, pain, cataracts
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characteristics of congenital myopathies?
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neonatal hypotonia, Z bad density
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cause of ion channel myopathy?
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mutations in ryanodine receptor1 gene --> core of reduced oxidative enzyme activity
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presentation of central core disease?
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periodic weakness, myotonia, malignant hyperthermia
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treatment for malignant hyperthermia?
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dantrolene sodium IV
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types of mutation in mitochondrial myopathies?
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nuclear DNA, mitochondrial point mutations, mitochondrial deletions or duplications
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patho polymyositis
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CD8 recognizes HLA 1 on sarcolemmal membranes; peri + endomysial infiltrate
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age of polyositis
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> 18
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dermatomyositis patho
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Ab mediated vascular disorder; perivascular atrophy
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presentation of dermatomyositis
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heliotrope rash, Gottrons papules, Machinist hands
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age of dermatomyositis
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5-15, 45-65 peaks
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inclusion body myositis patho
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CD8, amyloid, rimmed vacuoles, eosinophils
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drugs/toxins that cause myopathies
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thyroid dysfcn, ethanol, statins
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