Diseases Of Muscle

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connective tissue which encloses muscle as a whole

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epimysium

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collagenous septae which extend inward from epimysium to surroung groups of muscle fibers

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perimysium

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connective tissue which surrounds individual muscle fibers

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endomysium

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histochemical stain which reflects distribution of sarcoplasmic reticulum and mitochondria

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NADH tetrazolium reductase

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2 stains for glycogen storage disease

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myophosphorylase and periodic acid Schiff (PAS)

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define group atrophy

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atrophy of adjacent motor units as a result of acute rapidly progressive neuropathy

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target fibers

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seen in 20% of denervation, detected with NADH tetrazolium reductase as fibers with a central zone of pallor surrounded by darker condensed zone

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amyotrophic lateral scerosis, what degenerates?

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degeneration of corticospinal tracts and anterior horn cells

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amyotrphic lateral sclerosis clinical picture

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progressive paralysis accompanied by spacisity and hyperactive tendon reflexes. death from aspiration pneumonia in 2-6 yrs, sensation and intellect unaffected

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amyotrophic lateral sclerosis muscle biopsy

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changges of chronic neuropathy, with small angular fibers, fiber type grouping, and large group atrophy

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infantile spinal musclular atrophy, what is etiology, cns pathology?

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degeneration of anterior horn cells. genetic etiology, autosomal recessive

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infantile spinal muscular atrophy presentation

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congenital hypotonia, progressive, death in a few years
rarer form b/t 6 and 24 months

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infantile spinal muscular atrophy muscle biopsy

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acute neuropathy, scattered small fibers nad extensive group atrophy
chronic atrophy seen in milder form, with scattered small angular fibers and fiber type grouping

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poliomyelitis cns damage

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anterior horn cells

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poliomyelitis clinical course

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acute illness, fever, vomiting, diarrhea, sore throat, headache. may result in death, paralysis, or may be mild with recovery

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poliomyelitis muscle biopsy

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in acute stages little pathologic change, in atrophied paralyzed muscles extensive fiber atrophy with occasional persisting motor units with compensatory hypertrophy

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peroneal muscular atrophy site of degeneration

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periphereal nerves and nerve roots, involvement restricted to distal limb muscles and begins in feet

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clinical course peroneal muscualr atrophy

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onset in late childhood or adult, slowly progressive. sensation lost as well as motor fx

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muscle biopsy of peroneal muscular atrophy

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changes of chronic neuropathy with small angular fibers, type grouping, and group atrophy

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duchenne muscular dystrophy histology

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muscular atrophy and infiltration of the muscle by fat

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pathogeneis of duchenne muscular dystrophy

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delition of gene for dystrophin
dystrophin links subsarcolema to extracellular glycoprotein that binds laminin.
fibers lack interaction btween sarcolema and extracellular matrix

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myotonic muscular dystrophy symptoms

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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

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polymyositis and dermatomyosytis clinical course

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begins as symmetrix proximal weakness that develops insidiously. may involve skin lesions.,

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inclusion body myositis

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refractory to therapy, recognized by electron microscopy by the presence of filamentous inclusions in myofibers

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trichinosis

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infection with trichinella spiralis, nematode iin pori. migrates to encyst skeletal muscle. fever fatigue, muscle tenderness, eosinophilia

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type II glycogenosis (pompe's disease; acide maltase deficiency) presentation, involvement, biopsy, biochemical analysis

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floppy baby, cardiomegaly, death in 1st year
increased glycogen in muscle
absence of acid maltase, a lysozyme enzyme

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type v glycogenosis (mcardles' disease, myophosphorylase deficiency_ presentation, clinical features, biopsy

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stiffness, weakness, muscle pain with exercise
serum lactate fails to rise with exercise
normal life span
increased glycogen in muscle
negative for myophosphorylase

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myasthenia gravis pathogenesis

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immunologic attack on acetylcholine receptor, t cells activate b cells to produce antireceptor antibodies
40% associated thyoma and removal may cure

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word for dissolution of skeletal muscle fibbers with release of myoglobin into circulation

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rhabdomyolysis