Neuromusculoskeletal Ii-Exam 2 (Dr. Chang)

Front 1

Absent mitochondria in center of type 1 fibers.

Back 1

Central Core Disease

Front 2

Mutations of the Z bands where actin inserts. There are inclusions in the cells that look like rods.

Back 2

Nemaline Myopathies

Front 3

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.

Back 3

Centronuclear--monotubular myopathy.

Front 4

Pediatric progressive weakness, calf "pseudohypertrophy," Gower sign, joint contractures, kyphoscoliosis, decreased pulmonary function

Back 4

Duchennes/Becker MD

Front 5

Pathology:
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

Back 5

Duchennes/Becker MD

Front 6

Dystrophin Marker is completely absent on gel.

Back 6

Duchenne's MD

Front 7

Dystrophin marker is a bit heavier, so its not lined up in the right place on the gel.

Back 7

Becker's MD

Front 8

These people have myotonia, facial and distal weakness and wasting, cardiomyopathy, heart block, cataract, gonadal atrophy, diabetes, frontal balding, swallowing difficulties, constipation

Back 8

Myotonic Dystrophy

Front 9

Pathology:
1.Increased central nuclei
2.Fiber size variation
3.They resemble other dystrophies in advanced cases
4.Caused by CCTG expansion on chromosome 3

Back 9

Myotonic Dystrophy

Front 10

-Multi-system disorders due to respiratory chain defects, and have variable phenotypes (even if identical genotypes).
-Generalized weakness, progressive external opthalmoplegia is common.

Back 10

Mitochondrial Diseases

Hint 10

Ragged Red Fibers!

Front 11

Pathology:
-Extra redness

Back 11

Mitochondrial Disease

Hint 11

Ragged Red Fibers!! Have extra mitochondria b/c they are trying to compensate for their inefficiencies.

Front 12

Mitochondrial Crystal Inclusions

Back 12

Mitochondrial Disease

Hint 12

Parking Lot Inclusions

Front 13

-Cytochrome oxidase deficiency is the most common type of problem is what disease?
-Cytochrome oxidase deficiency causes muscle fibers to become atrophic.

Back 13

Mitochondrial Disease

Hint 13

Ragged Red Fibers

Front 14

Pompe's and McArdel's disease are what types of disease?

Back 14

Glycogen Storage Disease.

Front 15

Cause infantile hypotonia, cardiomegaly, hepatomegaly.

Back 15

Pompe's Disease

Front 16

-Cramp's or fatigue, weakness due to excercise.

Back 16

McArdel's Disease

Front 17

Both of these diseases show rise of serum lactate after excercise due to blockage of glycolysis.

Back 17

Pompe's Disease and McArdle's Disease

Front 18

This disease lead to the accumulation of glycogen.

Back 18

Glycogen Storage Diseases: Pompe's and McArdle's

Front 19

What glycogen storage disease is fatal before 2 years?

Back 19

Pompe's Disease

Front 20

-Have a fixed mild myopathy but need to prevent renal failure due to myoglobinuria.
-If given oral sucrose before excercise they do okay.

Back 20

McArdel's Disease

Front 21

-Elevated creatine kinase.
-Pathology:
1.Lots of lymphocytes b/c its a cell-mediated immune response against muscle fibers
2.necrotic fibers
-Treat with steroids

Back 21

Polymyositis

Front 22

-Elevated creatine kinase
-Develop weakness over weeks and months
-Have a facial rash
-Humoral-mediated microangiopathy with ischemic necrosis of muscle fibers
Pathology:
1.Peri-fasicular atrophy
2.Perimysial-perivascular inflammation
Tx: responds to corticosteroids

Back 22

Dermatomyositis

Front 23

What 2 autoimmune diseases might be peri-neoplastic?

Back 23

Polymyositis, Dermatomyositis

Front 24

Pathology:
1.ring vacuoles in the muscle fibers
Tx: Don't respond to corticosteroids (in contrast to polymyositis and dermatomyositis)

Back 24

Inclusion Body Myositis

Front 25

Pathology of muscle caused by what virus?
1.necrosis
2.macrophages
3.AZT drug effects

Back 25

HIV myopathy

Front 26

What class of bugs have toxins that do local destruction?

Back 26

Clostridium

Front 27

This bug has destructive enzymes/toxins--cellulites, necrosis, gangrene

Back 27

C. perfringens

Front 28

This bug has neurotoxin that blocks the release of GABA in the CNS, causes tetanus.

Back 28

C. tetani

Front 29

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.

Back 29

C. botulinum

Front 30

-Worm that is in a muscle
-Pain, weakness, or asymptomatic--they are at risk for myocarditis and pneumonia

Back 30

Trichinosis

Hint 30

Curled up T for Trichinosis!

Front 31

-Pork tapeworm
-Most are asymptomatic and are at risk for CNS infections.

Back 31

Cysticercosis

Hint 31

Cysticercosis forms cysts in the head.

Front 32

People with these types of myopathies present with pain, weakness, acute rhabdomyolysis/myoglobinuria

Back 32

Toxic Myopathies

Front 33

Type 2 fiber atrophy is caused by what toxin?

Back 33

Corticosteroid Myopathy

Front 34

Necrosis of muscle is caused by what toxin?

Back 34

Alcoholic Myopathy

Front 35

-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

Back 35

Myasthenia Gravis

Front 36

What are the 3 major pathological disease categories of muscle?

Back 36

1.neurogenic
2.myogenic
3.inflammatory

Front 37

What are the 4 main histopathologies of nerves?

Back 37

1.Axonopathic
2.Demyelinating
3.Inflammatory
4.Amyloid Neuropathy

Front 38

This nerve fascial layer is important b/c it is where we put our sutures in.

Back 38

Epineurium

Front 39

This fascial layer forms the blood-nerve barrier.

Back 39

Perineurium

Front 40

This fascial layer is between nerve axons.

Back 40

Endoneurium

Front 41

-Loss of small axons, endoneurial/pervascular amyloid deposits.
-Pain and temp. sensory abnormalities and autonomic dysfunctions. Associated with cardiac myopathy and renal diseases.

Back 41

Amyloid Neuropathy-primary neuropathy

Front 42

-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

Back 42

Guillian Barre (Acute inflammatory demyelinating polyradiculoneuropathy)

Front 43

-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)

Back 43

Guillian-Barre (Chronic Inflammatory Demyelinating Polyneuropathy)

Front 44

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

Back 44

Diabetic Neuropathy

Front 45

-Slow progression of symmetrical polyneuropathy, often affecting pain fibers, and tend to affect extremities with lower temperature (like the ear lobes and nose)
-Pathology:
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

Back 45

Leprosy

Front 46

-These people present with painful vesicular eruptions and neuropathy involving localized dermatomes in adults or elderly
-Pathology:
1.nonspecific axonal loss
2.neuronal loss in the ganglia

Back 46

Varicella-Zoster Virus (shingles)