Quarter 2, Biochemistry, Test 2, Muscle Myopathies

Front 1

what is a common characteristic of all of the muscular dystrophies

Back 1

creatinuria

Front 2

what disease group is characterized by a class of inherited disorders of metabolism characterized by muscle degeneration and progressive muscular weakness

Back 2

muscular dystrophies

Front 3

what are the two x-linked muscular dystrophies

Back 3

Duchenne's and Becker's

Front 4

what is the autosomal dominant muscular dystrophy

Back 4

myotonic muscular dystrophy

Front 5

what is the primary defect in Duchenne's Muscular Dystrophy

Back 5

dystrophin

Front 6

in duchenne's muscular dystrophy what effect does the lack of dystrophin have on the muscle cell

Back 6

decrease integrity of plasma membrane resulting in increased osmotic fragility or permitting excessive calcium influx

Front 7

if the following is observed what type of muscular dystrophy is present: delays in gross motor development (2yrs), difficulty walking, running, climbing stairs and riding a tricycle appears by 3-5 yrs old

Back 7

Duchenne's Muscular Dystrophy

Front 8

elevation of what would be a good measure to determine Duchenne's Muscular dystrophy

Back 8

creatine kinase (not MD is only 10 times normal value)

Front 9

in Duchenne's Muscular Dystrophy what gradually replaces lost muscle

Back 9

fat

Front 10

what is the defeinitve diagnosis for diagnosing muscular dystrophin

Back 10

dystrophin deficiency or defecet

Front 11

by what age are children with Duchenne's MD usually wheel chair bound

Back 11

12

Front 12

what drug can be given to treat Duchenne's MD which improves muscle mass and muscle function via suppression of cytotoxic T lymphocytes

Back 12

prednisone

Front 13

what is the most common muscular dystrophy in adults

Back 13

Myotonic Muscular Dystrophy (autosomal dominant)

Front 14

what chromosome is effected by myotonic muscular dystrophy

Back 14

19q

Front 15

what gene contains the defect for myotonic muscular dystrophy

Back 15

mytonin protein kinase

Front 16

what type of MD is present if there is an inability for the muscle to relax, slow progressive muscle weakness of face, pharynx, masseter, temporalis, tongue, distal limbs, and high incidence of GI disorders diabetes and cataracts

Back 16

Myotonic Duscular dystrophy

Front 17

what effect will myotonic muscular dystrophy have on serum creatine kinase levels

Back 17

normal to 3x increase

Front 18

during surgery, what is important to remember about a patient with Myotonic muscular dystrophy

Back 18

avoid use of non-depolarizing anesthesia (succinyl choline)

Front 19

how is human mitochondrial DNA transfered

Back 19

maternally vis non-mendelian inheritance

Front 20

if a mother is affected with mitochondrial myopathies, which children will get it?

Back 20

all children and daughters will pass it on

Front 21

if a patient with mitochondrial myopathies has a mixture of good and mutated DNA what is that called

Back 21

heteroplasmy

Front 22

progressive external ophthalmoplegia, limb weakness, elevated lactic acid, cataracts, retinitis pigmentosa, cardiomyopathy, intestinal obstruction, endocrine disorders, seizure, stroke may be signs of

Back 22

muscular myopathy

Front 23

how is mitochondrial myopathy diagnosed

Back 23

abnormal shape and size mitochondria, red ragged fibers, rearrangement or mutation of mtDNA

Front 24

what two types of mitochondrial myopathies exist

Back 24

MELAS and MERRF

Front 25

if a patient is short, has exercise intolerance, seizures and strokelike episodes and red ragged fibers, may progress to dementia and bed ridden and death between 20-40

Back 25

MELAS

Front 26

what causes MELAS

Back 26

point mutation in tRNAsubstituting guanine for adenine

Front 27

what myopathy has myoclunus, seizures, intellectual deterioration, cerebellar dysfunction, hearing loss, and red ragged fibers

Back 27

MERRF

Front 28

what causes MERFF

Back 28

point mutation in tRNA substituting a guanine for adenine