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NEUROLOGY REVIEW > Diseases of the Muscle, NMJ, Myotonia > Flashcards

Diseases of the Muscle, NMJ, Myotonia Flashcards

1
Q

Mechanoreceptor for sensation of deep pressure-pain

A

Free nerve endings

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2
Q

Are tension receptors that participate in the maintenance of muscle tone and reflex activity

(2)

A

Golgi tendon organs
and Muscle Spindles
p. 1406

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3
Q

These are specialized groups of small muscle fibers that regulate muscle contraction and relaxation

A

Muscle spindles

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4
Q

Sheets of collagen that binds together individual muscle fibers into fascicles

A

Perimysium

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5
Q

a fully formed myofiber has its nuclei located:

A. Centrally
B. Peripherally

A

B. peripherally

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6
Q

Counting up to 20 equates with a vital capacity of approximately?

A

20 liters

page 1413

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7
Q

Defining histopathological feature of Inclusion body myositis

A

intracytoplasmic, subsarcolemmal vacuoles and eosinophilic inclusions in both the cytoplasm and nuclei of degenerating muscle fibers

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8
Q

The following statements are true of inclusion body myositis, EXCEPT:

a. it is common in patients older than 50 years old
b. common in males more than females
c. presents as painless distal weakness in the arms and both proximal and distal weakness in the legs
d. it is responsive to steroids and other immunosuppressive agents

A

d.

it is not responsive to corticosteroids and immunosuppressive agents.
no benefit of IVIG
plasma exchange and leukocytapheresis - poor results.

page 1423

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9
Q

Main source of energy during exercise (1) ______

later, with exhaustion of glycogen stores, energy is provided by oxidation of (2) ______

A

1 Glucose

2 fatty acids

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10
Q

difference of myasthenia gravis and botulism

A

PUPILS
botulism = pupils are usually large and unreactive

eye signs are followed in rapid succession by involvement of the bulbar, trunk and limb muscles

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11
Q

Cancer most often associated with Lambert-Eaton Myasthenic Syndrome

A

Small cell lung Ca

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12
Q

Gene mutation associated with Central Core Disease?

a. ACTA1 mutation
b. ryanodine receptor 1 gene (RYR1)
c. MTM1
d. Dynamin (DNM2) gene

A

b. ryanodine receptor 1 gene (RYR1)

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13
Q

IDENTIFY

Gene mutation associated with Nemaline Myopathy

A

ACTA1 mutation
Nebulin

2 are most common

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14
Q

Pathological finding in nemaline myopathy

A

red stained rods in the peripheral clusters on Modified Gomori Trichrome stain

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15
Q

Match the following with the enzyme deficiency

  1. Pompe
  2. McArdle
  3. Tarui
  4. Cori
  5. Andersen

a. Debranching enzyme
b. Branching enzyme
c. phosphofructokinase
d. alpha-glucosidase
e. myophosphorylase

A
  1. Pompe - D. Alpha-glucosidase
  2. McArdle - E. Myophosphorylase
  3. Tarui C. Phosphofructokinase
  4. Cori - A. Debranching enzyme
  5. Andersen - B. Branching Enzyme
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16
Q

Gene involved in Duchenne Muscular Dystrophy (1)

Codes for this protein (2)

A

DMD gene

Dystrophin

17
Q

Autosomal dominant disease presenting as asymmetric weakness of the facial, shoulder and upper arm muscles with sparing of the deltoids

A

Fascioscapulohumeral dystrophy

18
Q

childhood/adolescent with classic triad of

  1. weakness of biceps, triceps, deltoids and typically distal more than proximal legs
  2. elbow and or ankle contractures
  3. cardiac conduction defects
A

Emery Dreifuss muscular dystrophy

19
Q

Most common adult muscular dystrophy

A

Myotonic dystrophy Type 1

20
Q

Which of the following would be a pathological finding in Myotubular myopathy?

A. peripherally placed masses and circular bundles of myofibrils (ringbiden fibers)
B. centrally located nuclei with perinuclear sarcoplasmic reticulum extending radially in a halo formation
C. rod or thread like eospinophilic structures on Gomori Trichrome stain
D. lucent central cores on NADH stain with variably sized fibers with internalized nuclei

A

Answer: B.

A. peripherally placed masses and circular bundles of myofibrils (ringbiden fibers) - MYOTONIC DYSTROPHY
B. centrally located nuclei with perinuclear sarcoplasmic reticulum extending radially in a halo formation - MYOTUBULAR DYSTROPHY
C. rod or thread like eospinophilic structures on Gomori Trichrome stain - NEMALINE MYOPATHY
D. lucent central cores on NADH stain with variably sized fibers with internalized nuclei - CENTRAL CORE MYOPATHY

21
Q

Which of the following is NOT a characteristic of Limb Girdle Muscular Dystrophy?

a. patient will not have hypertrophy of calf muscles
b. cardiac involvement is infrequent
c. may have facial muscle involvement
d. mentation is usually normal

A

c. may have facial muscle involvement

- facial muscles are spared.

22
Q

Which of the following is true of Myotonic Dystrophy type 1?

a. it is a milder form of myotonic dystrophy
b. it is inherited as a autosomal recessive form
c. caused by an expanded triplet repeat in CNBP gene on Chromosome 3
d. a critical element in pathogenesis of this disease is intranuclear accumulation of the expanded RNA sequences

A

D. a critical element in pathogenesis of this disease is intranuclear accumulation of the expanded RNA sequences - SEEN in both TYPE 1 AND 2

A, B and C are characteristics of Myotonic Dystrophy Type 2

23
Q

Gene mutation associated with Malignant hyperthermia

A

RYR1 gene

ryanodine receptor 1 gene

24
Q

Which is NOT TRUE of paramyotonia congenita?

a. it is associated with gene mutationin CACNA1
b. it is inherited as autosomal dominant pattern
c. it is characterized by attacks of periodic paralysis associated with myotonia during exercise and worsening as exercise continues
d. it is induced by cold

A

a.

gene mutation ; SCN4A

25
Q

Which of the following is disease involving the calcium channel?

a. Myotonia Congenita
b. Hyperkalemic periodic paralysis
c. Andersen Tawil Disease
d. Hypokalemic Periodic Paralysis

A

D. Hypokalemic periodic paralysis

a. Myotonia Congenita - CHLORIDE CHANNEL
b. Hyperkalemic periodic paralysis - SODIUM CHANNEL
c. Andersen Tawil Disease - POTASSIUM CHANNEL
d. Hypokalemic Periodic Paralysis - CALCIUM CHANNEL

26
Q

Which of the following is a Na channel disease?

a. Hypokalemic periodic paralysis
b. Normokalemic periodic paralysis
c. Malignant Hyperthermia
d. Myotonia Congenita

A

B. Normokalemic periodic paralysis

a. Hypokalemic periodic paralysis - CALCIUM
b. Normokalemic periodic paralysis - SODIUM
c. Malignant Hyperthermia - CALCIUM
d. Myotonia Congenita - CHLORIDE

27
Q

Gene mutation responsible for hypokalemic periodic paralysis

A

CACNA1S

28
Q

A potassium channel disease with the triad

(1) periodic potassium sensitive weakness
(2) ventricular dysrrhythmias with long QT syndrome
(3) dysmorphic features - (micrognathia, short stature, scaphocephaly, hypertelorism, broad nose, low set ears and short index fingers)

what is the gene mutation

A

Andersen Tawil

dominant negative mutation in the gene KCNJ2

29
Q

Tonic spasm of muscle after forceful voluntary contraction

A

Myotonia

30
Q

Gene mutation in Myotonia Congenita

A

CLCN1

voltage dependent chloride channel gene

31
Q

In older adults, the most common cause of isolated quadriceps femoris weakness?*

A

Inclusion body myositis

32
Q

May be associated with congenital absence of muscle such as pectoralis and biceps?*

a. Duchenne
b. Becker
c. Emery Dreifuss
d. Limb Girdle muscular dystrophy
e. Fascioscapulohumeral muscular dystrophy

A

???

33
Q

About 2/3 of cases of Stiff man syndrome are associated with antibodies that are reactive to this enzyme

A

glutamic acid decarboxylase

34
Q

Match the myopathic syndrome with the corresponding cause

  1. Prednisone
  2. Colchicine
  3. Zidovudine

a. vacuolar myopathy
b. type II fiber atrophy
c. mitochondrial myopathy with ragged red fibers

A
  1. prednisone - Type II fiber myopathy
  2. colchicine - Vacuolar Myopathy
  3. zidovudine - Mitochondrial myopathy with ragged red fibers

Colchicine - rimmed vacuoles on gomori trichrome stain, central

35
Q

the trident tongue is characteristically seen in

A

anti MUSK (+) MG

36
Q

for MG, match the drug with the dose

  1. Azathioprine
  2. Cyclosporine
  3. Mycophenolate

A. 50mg/tab 1 tab BID
B. 6mg/kg/day in 2 doses
C. 500 mg TID

A
  1. Azathioprine A. 50mg/tab 1 tab BID
  2. Cyclosporine B. 6mg/kg/day in 2 doses
  3. Mycophenolate C. 500 mg TID
37
Q

These drugs affect both pre and post synaptic neuromuscular transmission activity and hazardous when given to patients with MG

a. aminoglycosides
b. tetracyclines
c. floroquinolones

A

c. floroquinolones

NEUROLOGY REVIEW (24 decks)

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