Neuromuscular Diease part 2

Question 1

does a mortons neurom count as a tumor

Answer 1

no it is a non-tumor it is just a traumatic neuroma

Question 2

plexiform neurofibromas are pathognomoic for

Answer 2

NF1

Question 3

Diffuse fibromas often associated with

Answer 3

NF1

Question 4

TQ Pigmented iris hamartomas (lisch nodules

Answer 4

Neurofibromatosis, Type 1

Von Recklinghausen Disease

Question 5

Neurofibromatosis, Type 1

(Von Recklinghausen Disease) three major features

Answer 5

– Multiple neural tumors (neurofibromas)
• Can be anywhere on the body
– Numerous pigmented skin lesions, some of which
are café au lait spots
– Pigmented iris hamartomas (lisch nodules)

Question 6

hallmark lession of NF-1

Answer 6

plexiform neurofibromas

Question 7

NF-1 gene has been maped to chromosome

Answer 7

17

Question 8

cafe au lait spots seen in NF1 or NF2

Answer 8

seen in both

Question 9

lisch nodules seen in

Answer 9

only nf1

Question 10

nf type 2 genetics located on chromosome

Answer 10

22 its the merlin gene

Question 11

what is the most common affected nerve by malignant peripheral nerve sheath tumoir

Answer 11

sciatic nerve

Question 12

Hyperreflexia due to loss of lower motor and
upper motor neurons in the anterior horns of
the spinal cord and in corticospinal tracts is a feature of TQ TQ TQ

Answer 12

Amyotrophic Lateral Sclerosis

Question 13

Amyotrophic Lateral Sclerosis Clincal S and S

Answer 13

• Early: asymmetric weakness of hands
• Cramping and spasticity of the arms and legs
• With disease progression, diminished muscle
strength and bulk
• Fasiculations
• Eventually, respiratory muscles involved

Question 14

Gowers maneuver

Answer 14

using the upper extremities to stand up characteristic of ducheene muscular dystrophy

Question 15

• X-Linked Muscular Dystrophies

Answer 15

Duchenne’s Muscular Dystrophy

– Becker’s Muscular Dystrophy

Question 16

Duchenne’s Muscular Dystrophy Symptoms begin at the

Answer 16

pelvic girdle

Question 17

what is psedohypertrophy and where do you seen in in Duchenne’s Muscular Dystrophy

Answer 17

cald muscles, first your muscle will get bigger but then as your myofibers are destroyed they are to be replaced with fat and connective tissue

Question 18

TQ Dystrophin

Answer 18

in DMD there will be no dystrophin , it plays a role in maintaining the integrity of the myocyte membran eduring shape change associated with contraction

Question 19

function dystrophin

Answer 19

Plays a role in maintaining the integrity of the
myocyte membrane during shape change
associated with contraction

Question 20

TQ DMD: Morphology

Answer 20

Degeneration, necrosis, and phagocytosis of
muscle fibers
• Regeneration of muscle fibers
• Proliferation of endomysial connective tissue

Question 21

becker muscular dystrophy

Answer 21

dystropin gene mutation but still have it so the diease is less severe than DMD where you have no dystrophin

Question 22

type 1 autosomal muscular dystrophy

Answer 22

AD

Question 23

type 2 autsomal muscular dystrophy

Answer 23

AR

Question 24

cardinal neuromuscular symtoms of myotonic dystrophy

Answer 24

myotonia, the sustained involuntary contraction of a group of muscle

Question 25

anticipation

Answer 25

a diease which tend to increase in severity and appear at a younger age in succeeding generation

Question 26

atrophy of the facial muscle and trouble relaxing the grip after a hand shake seen in

Answer 26

myotonic dystropgy

Question 27

floppy baby

Answer 27

hypotonia of a the congenital myopathy type

Question 28

central core diease 1. inheritace 2. what is affected

Answer 28

1. AD | 2. only type 1 fibers are effected

Question 29

Central Core Disease | • Clinical S&S:

Answer 29

Early-onset hypotonia and non-progressive weakness – Associated with skeletal deformities – May develop malignant hyperthermia

Question 30

Nemaline Myopathy inheritance:

Answer 30

– Both autosomal dominant and recessive

Question 31

Nemaline Myopathy Morphology:

Answer 31

– Aggregates of subsarcolemmal spindle-shaped particles (nemaline rods) – Occur predominately in type I fibers – Derived from Z-band material

Question 32

McCardle Syndrome clincal Signs and symptoms

Answer 32

* Painful cramps with strenuous exercise * Myoglobinuria in ~50% * Muscular exercise fails to raise serum lactate levels * Normal longevity

Question 33

lipid myopathies are the result of

Answer 33

carnitine deficiency that leads to accumulation of lipid within myocytes

Question 34

TQ mitochondrial myopathies have what inheritance pattern

Answer 34

maternal inheritance pattern

Question 35

Ragged red fiber

Answer 35

mitochondrial myopathies

Question 36

Cushings syndrome predominately effects what type fibers and proximal or distal muscle

Answer 36

proximal muscle weakness of type 2 fibers

Question 37

what occurs in choloroquine myopathy

Answer 37

vacuoles within myocytes

Question 38

vacuoles within myocytes seen in

Answer 38

chloroquine myopathy

Question 39

what will happen to DTR is hypothyrioism

Answer 39

decreased or dimished

Question 40

what will happen to DTR's in hyperthyriodism

Answer 40

increased

Question 41

“Binge” drinking of alcohol can produce an | acute toxic syndrome of ______________

Answer 41

RHABDOMYOLYSIS, which leads to renal failure

Question 42

Muscle disease caused by immune-mediated loss of acetylcholine receptors and having characteristic temporal and anatomic patterns as well as drug response

Answer 42

Myasthenia Gravis

Question 43

Myasthenia Gravis: Pathogenesis | • Nerve conduction studies:

Answer 43

NORMAL

Question 44

MG Electrophysiologic studies:

Answer 44

decrease in motor response with repeated stimulation

Question 45

Are autonomic functions effected by MG

Answer 45

no

Question 46

in severe cases of MG what type muscle fiber is effected

Answer 46

type 2

Question 47

where does weakness typically begin in MG

Answer 47

extraocular muscle, thus you can have double vision and ptosis

Question 48

treatment of MG

Answer 48

anticholinesterase agents, prednisone, plasmaphheresis, and recesction of thymona

Question 49

Lambert-Eaton Myasthenic | Syndrome electrophysiology if you repeatedly stimulate a motor nerve what will happen

Answer 49

muscle response is INCREASED TQ TQ TQ

Question 50

Are autnomic functions effected by Lambert-Eaton Myasthenic syndrome

Answer 50

YES dysfunction

Question 51

Lambert-Eaton Myasthenic | Syndrome what has gone wroung

Answer 51

fewer vesicle of Ach are released in response to each presynaptic action potential (unlike MG where normal amount released by no receptors for ach are to be found)

Question 52

Fibromyalgia is a diagnosis of TQ

Answer 52

exclusion