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Bone > Dougherty Part 10 > Flashcards

Dougherty Part 10 Flashcards

1
Q

Limb Girdle Muscular Dystrophy presents where

A

proximal muscles affected:
shoulder to humerus
thigh

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2
Q

what is seen Limb Girdle Muscular Dystrophy

A

begin to walk with a waddling gait because of weak hip and leg muscles
trouble getting out of chair or climbing stairs
weakness in shoulder

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3
Q

Limb Girdle Muscular Dystrophy is typically related to what

A

dystrophyn glycoprotein complex

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4
Q

Facioscapulohumeral Muscular Dystrophy presents where

A

face
pecks
biceps

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5
Q

Facioscapulohumeral MD presents how

A

facial weakness
wasting of the upper arms and shoulder muscles
the scapular bones look like wings when the arms are raised

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6
Q

Emery-Dreifuss Muscular Dystrophy presents with what triad

A

early on humeropperoneal weakness (proximal in the upper limbs and distal in the lower limbs)
prominent contractures, especially elbows and ankles
cardiomyopathy

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7
Q

what muscular dystrophy do you see cardiomyopathy

A

Emery Dreifuss Muscular Dystrophy

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8
Q

what muscular dystrophy do you see a waddling gait

A

limb girdle muscular dystrophy

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9
Q

what muscular dystrophy do you see the scapular bones popping out like wings when arms are raised

A

Facioscapulohumeral MD

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10
Q

what issue can be elicited by percussion of the thenar eminence

A

myotonic dystophy

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11
Q

what is seen in myotonic dystrophy

A

facial muscle atrophy and ptosis
myotonia (sustained involuntary contration)- stiffness, difficulty releasing grip
abnormal gait and weak foot dorsiflexion
weakness of intrinsic hand and wrist extension

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12
Q

what is the issue in myotonic dystrophy

A

AD
Dystrophila myotonia-protien kinase (DMPK)
CTG repeat expansion on 19q

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13
Q

what is anticipation and when is it seen

A

onset at a younger age in succeeding generations

myotonic dystrophy

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14
Q

hypotonic channelopathies are due to what

A

potassium:
hypokalemic periodic paralysis
hyperkalemic periodic paralysis
normokalemic periodic paralysis

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15
Q

malignant hyperpyrexia aka malignant hyperthermia is due to what

A

Calcium channel

Ryanodine Receptor RyR1 (RYR1 gene)

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16
Q

what is seen in malignant hyperpyrexia and what triggers it

A

sudden hyper metabolic state with tachypnea and general muscle contraction
triggered by anesthesia (halogen containing gases or succinylcholine)

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17
Q

how do you treat malignant hyperthermia

A

dantrolene

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18
Q

what are the underlying processes occurring in malignant hyperpyresia

A 
lactic acidosis (anaerobic metabolism)
rhabdomyolysis
hyperkalemia
renal failure
hyperthermia
19
Q

congenital myopathies may present as what

A

“floppy baby” (hypotonia)

arthrogryposis- congenital fixation of a join in an extended or flexed position

20
Q

a central light center (hole) in an area of type 1 fibers histologically is seen in what

A

central core disease

21
Q

central core disease is what and due to what

A

hypotonia

AD- ryanodine receptor-1 (RYR1) gene defect

22
Q

central core disease proposes a risk for what

A

malignant hyperthermia

23
Q

Nemaline Myopathy presents how

A

nonprogressive hypotonia, weakness
delayed development in kids
involves proximal limb muscles

24
Q

what is seen histologically in Nemaline Myopathy

A

subsarcolemmal spindle-shaped particles from Z-band (alpha-actin) material
look like purple deposits in blue cells (trichrome stain)

25
Q

Centronuclear (myotubular) myopathy is characterized by what

A

central nuclei usually confine to type 1 fibers

26
Q

what is seen in lipid myopathies

A

lipids accumulare in myocytes

RED DOTS in the cells on lipid stain

27
Q

lipid myopathies are due to what

A

defects in carnitine transport

defects in mitochondrial dehydrogenase enzyme system

28
Q

ragged red fibers are seen in what

A

mitochondrial myopathies

29
Q

mitochondrial myopathies are also known as what and is due to what

A

“oxidative phosphorylation diseases”

defect may be mtDNA or nuclear DNA

30
Q

what is seen histologically in mitochondrial myopathies aka oxidative phosphorylation diseases

A

ragged red fibers from aggregated mitochondria

mitochondria “parking lot” paracrystalline inclusions

31
Q

Dermatomyositis presents how

A

lilac or heliotrope discoloration of upper eyelids with periorbital edema
scaling erythematous eruption or dusky red patches over knuckles, elbows, knees (Grotten lesions)
muscle weakness +/- myalgias (slow and symmetrical)

32
Q

what are grotten lesions and when are they seen

A

seen in dermatomyositis

scaling erythematous eruption or dusky red patches over knuckles, elbows, knees

33
Q

dermatomyositis is associated with what

A 
up to 25% have caner (paraneoplastic w/ breast and lung)
juvenile DM (in addition GI involved causing abdominal pain)
34
Q

dermatomyositis is due to what

A

microvasculature being attacked by antibodies and compliment creating ischemia

35
Q

what is seen on bone X-rays of people with dermatomyositis

A

calcinosis

36
Q

what cells mediate Dermatomyositis

A

CD4 T-cells

B cells

37
Q

what is seen in dermatomyositis due to microvascular attack

A

inflammation of perimysial connective tissue NOT muscle
telangiectasias in nail folds, eyelids, and gums
perifasicular atrophy- atrophy prominent at periphery of fascicles

38
Q

what is polymyositis

A

systemic inflammatory myopathy

cytotoxic CD8+ T cells in endomysium destroy muscle

39
Q

what is seen in polymyositis

A

muscle weakness +/- myalgias (EARLY PROXIMAL muscles, late distal muscles)
autoantibodies against tRNA synthetases
+/- ANA positive

40
Q

Inclusion Body myositis is seen what patients and presents how

A

over 50 years old
EARLY DISTAL muscles (loss of quads)
+/- amyloid deposits
inflammation centered on myocytes

41
Q

what cells mediate inclusion body myositis

A

CD8+ cytotoxic T cells

42
Q

what are the intracellular deposits seen in inclusion body myositis

A

beta-amyloid protein
beta-pleated sheet fibrils
hyperphosphorylated tau protein

43
Q

what myositis starts with proximal muscles and which one starts distal

A

polymyositis and dermatomyositis begin proximally

inclusion body myositis begins distally

Bone (19 decks)

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