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46 Cards in this Set

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Absent mitochondria in center of type 1 fibers.
Central Core Disease
Mutations of the Z bands where actin inserts. There are inclusions in the cells that look like rods.
Nemaline Myopathies
Nuclei are at the center of the cell (like where they start out embryologically at 10 weeks) instead of the periphery of the cell where they are normally in a baby.
Centronuclear--monotubular myopathy.
Pediatric progressive weakness, calf "pseudohypertrophy," Gower sign, joint contractures, kyphoscoliosis, decreased pulmonary function
Duchennes/Becker MD
1.Fiber size variation: atrophic and hypertrophic fibers, generation and re-generation of fibers, no group atrophy like neurogenic problems
2.Fibrosis of the endomysium
3.Fatty infiltrate
Duchennes/Becker MD
Dystrophin Marker is completely absent on gel.
Duchenne's MD
Dystrophin marker is a bit heavier, so its not lined up in the right place on the gel.
Becker's MD
These people have myotonia, facial and distal weakness and wasting, cardiomyopathy, heart block, cataract, gonadal atrophy, diabetes, frontal balding, swallowing difficulties, constipation
Myotonic Dystrophy
1.Increased central nuclei
2.Fiber size variation
3.They resemble other dystrophies in advanced cases
4.Caused by CCTG expansion on chromosome 3
Myotonic Dystrophy
-Multi-system disorders due to respiratory chain defects, and have variable phenotypes (even if identical genotypes).
-Generalized weakness, progressive external opthalmoplegia is common.
Mitochondrial Diseases
Ragged Red Fibers!
-Extra redness
Mitochondrial Disease
Ragged Red Fibers!! Have extra mitochondria b/c they are trying to compensate for their inefficiencies.
Mitochondrial Crystal Inclusions
Mitochondrial Disease
Parking Lot Inclusions
-Cytochrome oxidase deficiency is the most common type of problem is what disease?
-Cytochrome oxidase deficiency causes muscle fibers to become atrophic.
Mitochondrial Disease
Ragged Red Fibers
Pompe's and McArdel's disease are what types of disease?
Glycogen Storage Disease.
Cause infantile hypotonia, cardiomegaly, hepatomegaly.
Pompe's Disease
-Cramp's or fatigue, weakness due to excercise.
McArdel's Disease
Both of these diseases show rise of serum lactate after excercise due to blockage of glycolysis.
Pompe's Disease and McArdle's Disease
This disease lead to the accumulation of glycogen.
Glycogen Storage Diseases: Pompe's and McArdle's
What glycogen storage disease is fatal before 2 years?
Pompe's Disease
-Have a fixed mild myopathy but need to prevent renal failure due to myoglobinuria.
-If given oral sucrose before excercise they do okay.
McArdel's Disease
-Elevated creatine kinase.
1.Lots of lymphocytes b/c its a cell-mediated immune response against muscle fibers
2.necrotic fibers
-Treat with steroids
-Elevated creatine kinase
-Develop weakness over weeks and months
-Have a facial rash
-Humoral-mediated microangiopathy with ischemic necrosis of muscle fibers
1.Peri-fasicular atrophy
2.Perimysial-perivascular inflammation
Tx: responds to corticosteroids
What 2 autoimmune diseases might be peri-neoplastic?
Polymyositis, Dermatomyositis
1.ring vacuoles in the muscle fibers
Tx: Don't respond to corticosteroids (in contrast to polymyositis and dermatomyositis)
Inclusion Body Myositis
Pathology of muscle caused by what virus?
3.AZT drug effects
HIV myopathy
What class of bugs have toxins that do local destruction?
This bug has destructive enzymes/toxins--cellulites, necrosis, gangrene
C. perfringens
This bug has neurotoxin that blocks the release of GABA in the CNS, causes tetanus.
C. tetani
This bug has a neurotoxin that blocks the release of ACh at the NMJ as well as autonomic nerve terminals. You get paralysis and autonomic dysfunctions.
C. botulinum
-Worm that is in a muscle
-Pain, weakness, or asymptomatic--they are at risk for myocarditis and pneumonia
Curled up T for Trichinosis!
-Pork tapeworm
-Most are asymptomatic and are at risk for CNS infections.
Cysticercosis forms cysts in the head.
People with these types of myopathies present with pain, weakness, acute rhabdomyolysis/myoglobinuria
Toxic Myopathies
Type 2 fiber atrophy is caused by what toxin?
Corticosteroid Myopathy
Necrosis of muscle is caused by what toxin?
Alcoholic Myopathy
-Diseae of NMJ
-Symptoms: generalized weakness, weakness of extraocular muscles (ptosis and diplopia)
-Pathology: Don't biopsy people with this disease b/c you won't see anything on the slide
-Tx: immunosuppressive therapy and remove thyoma if they have one
Myasthenia Gravis
What are the 3 major pathological disease categories of muscle?
What are the 4 main histopathologies of nerves?
4.Amyloid Neuropathy
This nerve fascial layer is important b/c it is where we put our sutures in.
This fascial layer forms the blood-nerve barrier.
This fascial layer is between nerve axons.
-Loss of small axons, endoneurial/pervascular amyloid deposits.
-Pain and temp. sensory abnormalities and autonomic dysfunctions. Associated with cardiac myopathy and renal diseases.
Amyloid Neuropathy-primary neuropathy
-Acute asymmetrical distal weakness rapidly progressing to proximal muscles and sensory signs
-Pathology: Endoneurial mononuclear inflammation mostly in nerve roots and accompanying segmental demyelination and some damage to axons
Guillian Barre (Acute inflammatory demyelinating polyradiculoneuropathy)
-Symmetrical proximal and distal weakness, with sensory abnormalities and hyporelexia evolving around 2 months
-Pathology: Endoneural chronic inflammation, macrophages, segmental demyelination and remyelination, "onion bulb" formation (this formation indicates a myelin formation problem)
Guillian-Barre (Chronic Inflammatory Demyelinating Polyneuropathy)
symmetrical sensorimotor polyneuropathy, pain & parasthesias in the lower limbs and some have autonomic dysfunctions.
-Pathology: nonspecific axonal loss, hyalinization of vessel walls, biopsy is rarely done except to rule out other treatable neuropathies
Diabetic Neuropathy
-Slow progression of symmetrical polyneuropathy, often affecting pain fibers, and tend to affect extremities with lower temperature (like the ear lobes and nose)
1.Endoneurial and/or epineurial granulomatous inflammation
2.nonspecific segmental demyelination and axonal loss
3.later showing endoneurial fibrosis and thickening perineurial sheaths
4.lipid laden macrophages may be filled with bacteria
-These people present with painful vesicular eruptions and neuropathy involving localized dermatomes in adults or elderly
1.nonspecific axonal loss
2.neuronal loss in the ganglia
Varicella-Zoster Virus (shingles)