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24 Cards in this Set
- Front
- Back
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Duchenne Muscular Dystrophy (Clinical)
Which gender? ______ often delayed in infancy Weakness begins where? Wheelchair around 10-12 Untreated death by __ Treated death by __ |
males
walking begins in pelvic, extending to shoulder girdle early 20's 25-35 |
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Which muscular disease?
Variation in fiber size increased internalization of nuclei evidence of fiber regen proliferation of endomysial connective tissue maybe necrosis/phagocytosis maybe subendothelial interstitial fibrosis |
Duchenne Muscular Dystrophy
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Which disease shows an enlargement of calf?
What is the cause? |
Duchenne
Fat replacing where muscles have left |
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In DMD the CPK is initially ______, then _______
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elevated
normal |
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What is the name of the sign which indicates Duchenne? Standing from supine position
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Gower's sign
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In DMD: when _______ is absent or defective, connective forces are missing (_____ which connects to connective tissue)
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Dystrophin
Actin |
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Abnormality of dystrophin gene in DMD is on ___ (deletions, framshift, point) - results in deletion of exon __
Mostly familial (2/3) In familial, females are carriers with elevated ____ levels and risk for dilated _________ later in life |
Xp21
50 CPK cardiomyopathy |
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One way to treat DMD is injection of PRO051 which results in formation of some what?
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dystrophin
they then have becker-like dystrophin |
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Which disease?
Lesion at Xp21 Later age of onset (adolescence) Some dystrophin present Mol size of dystrophin altered normal lifespan basically |
Becker Muscular Dystrophy (BMD)
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Myotonic dystrophy:
Onset in late childhood _____ muscle atrophy sustained, involuntary _____ of muscle groups (stiffness, can't say "goodbye") _____ tap sign Gait problems: _______ weakness of food hand/wrist extensor ______ facial muscle atrophy with _____ |
distal
contraction (peripheral groups) Thenar Dorsi-flexor atrophy ptosis HATCHET FACE |
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Which condition gives you "hatchet face"?
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Myotonic Dystrophy
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Dementia
Frontal balding cataracts cardiomyopathy gonadal atrophy (some abnormal glu tolerance, decreased IgG) |
Myotonic Dystrophy
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Which condition?
Massive internalization of nuclei Ring fibers Sarcoplasmic masses |
Myotonic dystrophy
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Myotonic dystrophy:
_______ repeat (normal 30, this is up to thousands) Adversely affect mRNA for _____ resulting in neonatal ______ |
Trinucleotide
DMPK hypotonia |
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christmas tree effect in the eye is diagnostic for what?
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Myotonic dystrophy
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Dermatomyositis:
_______ muscle weaknes, myalgias dysphagia ____/____ inflammation scaling, erythematous rash ______ upper eyelids with periorbital edema ______ lesions |
Proximal
heart/lung heliotrope (purple) Gottron (inflammation over bony tuberocities) |
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Which disease?
Hypoperfusion from endothelial injury PERImysial atrophy/inflammation (MONONUCS) maybe necrosis, regeneration in fascile |
Dermatomyositis
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Which condition is predominately in adults presenting with subacute or chronic proximal weakness, elevated CPK
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Polymyositis
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Polymyositis is a cell-mediated _____ disorder. It is non-infectious, inflammatory
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autoimmune (immunosuppressive therapy is beneficial)
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Endomysial CD8 cells and macrophages cause necrotic fibers throughout the fascicle.
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Polymyositis
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Myasthenia Gravis is type _ hypersensitivity, mostly what gender, under 40.
Happens with hyperplasia of the ____ |
Type II
Mostly women Thymus (also thymoma in 15%) |
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Which disease?
Ptosis, diplopia, generalized weakness which fluctuates, anticholinesterase as diagnostic test |
Myasthenia gravis
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Rx for Myasthenia Gravis:
P______, plasmapheresis, prostigmine Surgery of what? With therapy, 95% _ year survival |
Prednisone
thymectomy 5 year survival |
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In what condition can you see a lymphorrhage? small end plates also
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Myasthenia gravis
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