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diseases of muscle


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connective tissue which encloses muscle as a whole
collagenous septae which extend inward from epimysium to surroung groups of muscle fibers
connective tissue which surrounds individual muscle fibers
histochemical stain which reflects distribution of sarcoplasmic reticulum and mitochondria
NADH tetrazolium reductase
2 stains for glycogen storage disease
myophosphorylase and periodic acid Schiff (PAS)
define group atrophy
atrophy of adjacent motor units as a result of acute rapidly progressive neuropathy
target fibers
seen in 20% of denervation, detected with NADH tetrazolium reductase as fibers with a central zone of pallor surrounded by darker condensed zone
amyotrophic lateral scerosis, what degenerates?
degeneration of corticospinal tracts and anterior horn cells
amyotrphic lateral sclerosis clinical picture
progressive paralysis accompanied by spacisity and hyperactive tendon reflexes. death from aspiration pneumonia in 2-6 yrs, sensation and intellect unaffected
amyotrophic lateral sclerosis muscle biopsy
changges of chronic neuropathy, with small angular fibers, fiber type grouping, and large group atrophy
infantile spinal musclular atrophy, what is etiology, cns pathology?
degeneration of anterior horn cells. genetic etiology, autosomal recessive
infantile spinal muscular atrophy presentation
congenital hypotonia, progressive, death in a few years
rarer form b/t 6 and 24 months
infantile spinal muscular atrophy muscle biopsy
acute neuropathy, scattered small fibers nad extensive group atrophy
chronic atrophy seen in milder form, with scattered small angular fibers and fiber type grouping
poliomyelitis cns damage
anterior horn cells
poliomyelitis clinical course
acute illness, fever, vomiting, diarrhea, sore throat, headache. may result in death, paralysis, or may be mild with recovery
poliomyelitis muscle biopsy
in acute stages little pathologic change, in atrophied paralyzed muscles extensive fiber atrophy with occasional persisting motor units with compensatory hypertrophy
peroneal muscular atrophy site of degeneration
periphereal nerves and nerve roots, involvement restricted to distal limb muscles and begins in feet
clinical course peroneal muscualr atrophy
onset in late childhood or adult, slowly progressive. sensation lost as well as motor fx
muscle biopsy of peroneal muscular atrophy
changes of chronic neuropathy with small angular fibers, type grouping, and group atrophy
duchenne muscular dystrophy histology
muscular atrophy and infiltration of the muscle by fat
pathogeneis of duchenne muscular dystrophy
delition of gene for dystrophin
dystrophin links subsarcolema to extracellular glycoprotein that binds laminin.
fibers lack interaction btween sarcolema and extracellular matrix
myotonic muscular dystrophy symptoms
myotonia--inability to relax a muscle after a strong contraction
progresive muscle weakness and wasting
associated with frontal balding, catarcts, gonad atrophy, endocrine dysfunction, conduction abnormalities in heart
polymyositis and dermatomyosytis clinical course
begins as symmetrix proximal weakness that develops insidiously. may involve skin lesions.,
inclusion body myositis
refractory to therapy, recognized by electron microscopy by the presence of filamentous inclusions in myofibers
infection with trichinella spiralis, nematode iin pori. migrates to encyst skeletal muscle. fever fatigue, muscle tenderness, eosinophilia
type II glycogenosis (pompe's disease; acide maltase deficiency) presentation, involvement, biopsy, biochemical analysis
floppy baby, cardiomegaly, death in 1st year
increased glycogen in muscle
absence of acid maltase, a lysozyme enzyme
type v glycogenosis (mcardles' disease, myophosphorylase deficiency_ presentation, clinical features, biopsy
stiffness, weakness, muscle pain with exercise
serum lactate fails to rise with exercise
normal life span
increased glycogen in muscle
negative for myophosphorylase
myasthenia gravis pathogenesis
immunologic attack on acetylcholine receptor, t cells activate b cells to produce antireceptor antibodies
40% associated thyoma and removal may cure
word for dissolution of skeletal muscle fibbers with release of myoglobin into circulation

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