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(3) MS: Pediatric Conditions > S3_L2: Neuromuscular Diseases part 2 > Flashcards

S3_L2: Neuromuscular Diseases part 2 Flashcards

1
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Standing with arms at the sides, patient can abduct the arm in a
full circle until they touch above the head”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

A. 1

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2
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Patient can raise arm above head by flexing the elbow or using accessory muscles”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

B. 2

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3
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Patient cannot raise hands above the head, but can raise an 8 oz glass of water to the mouth (using both hands if necessary)”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

C. 3

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4
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Patient can raise hands to the mouth but cannot raise an 8 oz
glass of water to the mouth”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

D. 4

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5
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Patient cannot raise hands to the mouth but can use the hands to hold a pen or pick up pennies from a table”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

E. 5

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5
Q

Duchenne Muscular Dystrophy Functional Grade: Arms & Shoulders
“Patient cannot raise hands to the mouth and has no useful function of hands”
A. 1
B. 2
C. 3
D. 4
E. 5
F. 6

A

F. 6

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6
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks and climbs stairs without assistance”
A. 1
B. 2
C. 3
D. 4
E. 5

A

A. 1

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7
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks and climbs stairs with the aid of a railing”
A. 1
B. 2
C. 3
D. 4
E. 5

A

B. 2

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8
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks and climbs stairs slowly (elapsed time of more than 12
seconds for four standard stairs) with aid of a railing”
A. 1
B. 2
C. 3
D. 4
E. 5

A

C. 3

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9
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks unassisted and rises from a chair, but cannot climb stairs”
A. 1
B. 2
C. 3
D. 4
E. 5

A

D. 4

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10
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks unassisted but cannot rise from a chair or climb stairs”
A. 1
B. 2
C. 3
D. 4
E. 5

A

E. 5

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11
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks only with assistance or walks independently with long leg
braces”
A. 6
B. 7
C. 8
D. 9
E. 10

A

A. 6

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12
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Is in a wheelchair”
A. 6
B. 7
C. 8
D. 9
E. 10

A

D. 9

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13
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Stands in long leg braces, but is unable to walk even with
assistance”
A. 6
B. 7
C. 8
D. 9
E. 10

A

C. 8

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14
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Is confined to bed”
A. 6
B. 7
C. 8
D. 9
E. 10

A

E. 10

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15
Q

Duchenne Muscular Dystrophy Functional Grade: Hips and Legs
“Walks in long leg braces, but requires assistance for balance”
A. 6
B. 7
C. 8
D. 9
E. 10

A

B. 7

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16
Q
  1. Almost absent dysrophin
  2. Age of onset between 5 to 15 years
  3. Gene location Xp21

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. A
  2. B
  3. C
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17
Q
  1. Age of onset 4 years old
  2. Presence of mental retardation
  3. Abundance of dystrophin in
    immunostaining

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. A
  2. A
  3. B
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18
Q
  1. Mental retardation not common; mildly reduced intellectual performance but
    degree of impairment is not as severe
  2. Progression is fast, loss of ambulatory function by 10 y/o
  3. Slower rate of progression, ability to walk even up to late teen (or up to 30 y/o; some up to late 40s & 50s)

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. B
  2. A
  3. B
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19
Q
  1. Early development of contracture is not common
  2. Cardiac problem is usually severe
  3. Scoliosis is more common and
    usually severe

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. B
  2. A
  3. A
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20
Q
  1. (+) Gower’s
  2. Respiratory problem is seen as
    early as in 5 to 10 years old
  3. Pseudohypertrophy (calf enlargement)

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. C
  2. A
  3. C
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21
Q
  1. Cardiac involvement is mild and slowly progressive
  2. Contractures develop early
  3. Scoliosis is not common and
    severe

A. Duchenne Muscular Dystrophy
B. Becker Muscular Dystrophy
C. Both
D. Neither

A
  1. B
  2. A
  3. B
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22
Q
  1. mental retardation, structural
    malformation, dystrophic
    myopathy
  2. weakness, retardation, ocular
    abnormality (myopia and
    uncontrolled eye movement)
  3. mental retardation,
    ocular abnormality, cleft lip
    / palate

A. Fakuyama congenital
muscular dystrophy
B. Walker Warburg syndrome
C. Muscle Eye-Brain disease

A
  1. A
  2. C
  3. B
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23
Q

TRUE OR FALSE: Congenital muscular dystrophy without CNS involvement present with normal intellectual and mental function. Main features of this type of CMD are muscle weakness, hypotonia,
congenital contracture, and
normal to moderately elevated CK.

A

True

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24
Q

Group of infants presenting with
hypotonia, muscle weakness at birth or within first few months of life, congenital contracture and dystrophic pattern on
muscle biopsy

A

Congenital muscular dystrophy

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25
Q

TRUE OR FALSE: Congenital muscular dystrophy is usually static but some may show slow progression while others gain developmental milestones and achieve the ability to walk.

A

True

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26
Q

Enumerate the 3 X-linked muscular dystrophies.

A
  1. Emery Dreifuss muscular dystrophy
  2. Becker muscular dystrophy
  3. Duchenne muscular dystrophy
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27
Q
  1. X-linked recessive
  2. Pathology: Abnormality in dystrophin associated glycoprotein
  3. Autosomal dominant
  4. Autosomal recessive and
    dominant forms

A. Fascioscapulohumeral Muscular Dystrophy
B. Emery Dreifuss Muscular Dystrophy
C. Severe Childhood Autosomal Recessive Muscular Dystrophy
D. Limb Girdle Muscular Dystrophy

A
  1. B
  2. C
  3. A
  4. D
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28
Q

This disease first affects the muscles of the pelvic girdle and
proximal shoulder areas.

A

Limb Girdle Muscular Dystrophy

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29
Q

In congenital fiber type disproportion, which type of fiber is smaller: Type 1 or Type 2?

A

Type 1

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30
Q
  1. Presents with generalized hypotonia, congenital contractures, facial weakness and weakness of extraocular muscles
  2. Presents with long narrow face, high arch palate, high arch
  3. Presents with early hypotonia,
    delayed motor milestone, generalized weakness of both proximal and distal

A. Severe X-link myotubular myopathy
B. Myotubular myopathy
(Centronuclear myopathy)
C. Congenital fiber type disproportion

A
  1. A
  2. C
  3. B
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31
Q
  1. Presents with ptosis,
    weakness of external ocular muscles and axial muscle
  2. Presents with infantile hypotonia, delayed gross motor milestones, nonprogressive with
    kyphoscoliosis
  3. Presents with severe
    respiratory insufficiency and swallowing difficulty

A. Severe X-link myotubular myopathy
B. Myotubular myopathy
(Centronuclear myopathy)
C. Congenital fiber type disproportion

A
  1. B
  2. C
  3. A
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32
Q
  1. Autosomal recessive and dominant pattern
  2. X-link recessive (Xq28)
  3. Autosomal dominant inheritance

A. Severe X-link myotubular myopathy
B. Myotubular myopathy
(Centronuclear myopathy)
C. Congenital fiber type disproportion

A
  1. C
  2. A
  3. B
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33
Q
  1. May have kyphoscoliosis, cardiomyopathy, pigeon chest, pes cavus, swallowing problems
  2. Presents with hypotonia and delayed motor development,
    mild facial weakness
  3. Presents with diaphragmatic
    weakness putting them at risk for nocturnal hypoventilation

A. Mini-core Disease
B. Nemaline or “rod body myopathy”
C. Central Core Myopathy

A
  1. B
  2. A
  3. A
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34
Q
  1. Related with (+) history of malignant hyperthermia
  2. Severe form may present in neonates with respiratory difficulty; fatal

A. Mini-core Disease
B. Nemaline or “rod body myopathy”
C. Central Core Myopathy

A
  1. C
  2. B
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35
Q
  1. Mild nonprogressive myopathy with hypotonia and proximal weakness
  2. Affecting chromosome 19q13.1
  3. Due to decrease in mitochondrial oxidative
    enzymes in some muscles

A. Mini-core Disease
B. Nemaline or “rod body myopathy”
C. Central Core Myopathy

A
  1. B
  2. C
  3. A
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36
Q
  1. Typically autosomal recessive, some are autosomal dominant with locus at chromosome 1q21-q23
  2. Autosomal recessive
  3. Absent mitochondria
    and sarcoplasmic reticulum

A. Mini-core Disease
B. Nemaline or “rod body myopathy”
C. Central Core Myopathy

A
  1. B
  2. A
  3. C
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37
Q

Congenital myopathy presenting with mild, nonprogressive proximal or generalized
weakness but achieves motor milestones rather late.

A

Central Core Myopathy

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37
Q

Myopathy vs Dystrophy

  1. Always inherited
  2. Progression is static or improves with time or treatment
  3. Muscle enzymes are markedly increased
  4. Genetic & fibrillations are present in EMG

A. Myopathy
B. Dystrophy
C. Both
D. Neither

A
  1. B
  2. A
  3. B
  4. B
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38
Q

Myopathy vs Dystrophy

  1. Inheritance can be sporadic or autosomal recessive
  2. Always progressive
  3. No fibrillations on EMG
  4. Muscle enzymes mildly increased or normal

A. Myopathy
B. Dystrophy
C. Both
D. Neither

A
  1. A
  2. B
  3. A
  4. A
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39
Q

TRUE OR FALSE: Myopathies can be caused by congenital, metabolic, or endocrine etiologies.

A

True

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40
Q

State of delayed relaxation or sustained contraction of skeletal muscle. Muscles are unable to relax.

A

Myotonia

Note: Myotonia is similar to spasm or stiffening of a muscle.

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41
Q

Myotonic muscular dystrophy is also known as?

A

Steinert’s disease

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42
Q
  1. Skeletal abnormalities: short neck, kyphosis, stiff hypertrophic muscles
  2. Autosomal dominant

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. D
  2. E
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43
Q
  1. (+) Hypertrophy of muscles with severe hand and facial involvement but myotonic episodes subside within hours
  2. Autosomal recessive

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. C
  2. D
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44
Q
  1. Mild mental retardation
  2. Muscle hypertrophy or “Herculean” appearance

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. A
  2. B
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45
Q
  1. Long, thin face with
    temporal and masseter muscle wasting, “lugubrious facie”
  2. Dwarfism

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. A
  2. D
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46
Q
  1. Diffuse bone disease,
    narrow palpebral fissure
  2. Males have frontal baldness

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. D
  2. A
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47
Q
  1. Patients require more sleep
  2. Blepharospasm, micrognathia and flat facies

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. A
  2. D
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48
Q
  1. Present at birth but manifest late like difficulty releasing objects or difficulty walking
  2. Greater involvement of the distal than proximal muscles

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. B
  2. A
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49
Q

Myotonia congenita is also known as?

A

Thomsen’s disease

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49
Q
  1. Cardiac problems can be serious and should be followed up carefully
  2. Associated findings are gonadal atrophy in males, cataracts, and cardiac dysrhythmias

A. Myotonic Muscular Dystrophy
B. Myotonic Congenita (Thomsen’s disease)
C. Paramyotonia Congenita
D. Schwartz Jampel syndrome
E. A, B, & C only

A
  1. A
  2. A
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50
Q

The autosomal recessive form of myotonia congenita that has a late onset and presents with more myotonia and hypertrophy with weakness.

A

Becker form/disease

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51
Q

Myotonic Congenita and Paramyotonia Congenita are both aggravated by ___.

A

Cold

Note: Myotonia Congenita is also exacerbated by prolonged rest or inactivity.

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52
Q

Myotonic muscular dystrophy is an autosomally dominant disease characterized by an inability of the muscles to relax. It affects which sex?

A

Both sexes

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52
Q

From poorly cooked
contaminated food with toxins or from open wound that comes in contact with the bacteria through the soil
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

C. Acquired Botulism

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53
Q

Presents with ptosis,
diplopia, bulbar weakness, constipation, pupillary dilation
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

C. Acquired Botulism

54
Q

Presents with weakness of trunk,
limbs (proximal > distal) usually at the end of the day
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

E. Autoimmune Myasthenia Gravis

55
Q

Onset is insidious presenting with acute respiratory difficulties, ptosis,
ophthalmoparesis, facial weakness, swallowing
difficulties
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

E. Autoimmune Myasthenia Gravis

56
Q

Genetic disorder may present during neonatal period, late
childhood or adult life
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

B. Congenital Myasthenia Syndromes

57
Q

initial presentation is ptosis, ophthalmoparesis, facial weakness,
generalized hypotonia
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

B. Congenital Myasthenia Syndromes

58
Q

Seen in children born to mothers with myasthenia gravis due to transplacental transfer
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

A. Transient Neonatal Myasthenia

59
Q

Symptoms are present within first few hours; with
difficulty feeding, generalized weakness, respiratory problems, weak cry, facial weakness, and
sometimes ptosis
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

A. Transient Neonatal Myasthenia

60
Q
  1. diagnosis: (+) Clostridium botulinum toxin in rectal aspirate
  2. resolves within 2 –
    3 weeks

A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A
  1. D
  2. A
61
Q

Happens between 10 days to 6 months, with acute onset of
hypotonia, dysphagia,
constipation, weak cry, respiratory insufficiency, ptosis, and weakness
A. Transient Neonatal Myasthenia
B. Congenital Myasthenia Syndromes
C. Acquired Botulism
D. Infantile Botulism
E. Autoimmune Myasthenia Gravis

A

D. Infantile Botulism

Note: If the mom is infected and currently pregnant, botulism can be passed to the baby. This disorder is treated with antibiotics.

62
Q

The following are clinical signs of a floppy infant, EXCEPT:
a. Head lag when pulling them to sit.
b. Round back when sitting.
c. Reduced movement with legs fully abducted and arms lying beside the body either flexed or extended.
d. Rag doll and frog leg postures.
e. All of the above
f. None of the above

A

f. None of the above

63
Q

Breathing becomes affected during the early stages of
Duchenne, leading to respiratory infections. Severe respiratory and heart problems are usually seen in the boy’s teens and early 20s.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

B. Only the 2nd statement is true

Severe respiratory and heart problems mark the disease’s later/final stages.

64
Q

The following are pertinent in the diagnosis of DMD, EXCEPT:
a. Family history
b. Muscle biopsy
c. Elevated CK
d. History of malignant hyperthermia during general anesthesia for an unrelated surgical intervention
e. None of the above

A

e. None of the above

65
Q

Gait abnormalities in DMD include toe walking with compensatory
adaptation to (1)___ weakness and
(2)___ posture of the lumbar spine as a compensation to hip extensor weakness.

A
  1. knee extensor
  2. lordotic
66
Q

TRUE OR FALSE: Patients with Becker MD have a longer life expectancy than patients with Duchenne MD.

A

True

67
Q

Identify the muscles noted to be most severely involved in Becker Muscular Dystrophy

A

hip extensor, knee extensors, and neck flexors

68
Q

Identify the muscles spared in Fascioscapulohumeral Muscular Dystrophy

A

Muscles of mastication (i.e., masseter and temporalis), extraocular muscles, and pharyngeal muscles

69
Q

Third most common muscular dystrophy

A

Fascioscapulohumeral Muscular Dystrophy

70
Q

Term applied to muscle disorders presenting in infancy with generalized muscle weakness, poor muscle bulk, hyporeflexia, and hypotonia followed by delayed developmental milestones. Infants are present with weakness and hypotonia at birth.

A

Congenital myopathy

Note: Progression is static or may improve, unlike the progressive muscular dystrophies.

71
Q

A protein and gene located on chromosome Xq28

A

Emerin

72
Q

Emery Dreifuss Muscular Dystrophy is caused by a defect in the gene on which chromosome?

A

X chromosome (Xq28)

73
Q

The mutation associated with
Fascioscapulohumeral Muscular Dystrophy is located on which human chromosome?

A

chromosome 4p35

73
Q

One of the first noticed symptoms and the most common chief complaint in cases of Duchenne muscular dystrophy

A

Difficulty climbing steps

74
Q

Identify the most frequent presenting symptoms of Duchenne muscular dystrophy

A

abnormal gait, frequent falls, and difficulty climbing steps

75
Q

TRUE OR FALSE: Becker muscular dystrophy is milder than Duchenne muscular dystrophy

A

True

75
Q

TRUE OR FALSE: Without dystrophin in the muscle cell, the cell membrane becomes impermeable so that extracellular components cannot enter the cell.

A

False. Cell membrane becomes permeable and extracellular
components enter the cell, increasing the
internal pressure until the muscle cell
“explodes” and dies.

76
Q

____ is required inside muscle cells for
structural support; it is thought to strengthen muscle cells by anchoring elements of the internal cytoskeleton
to the surface membrane.

A

Dystrophin

Note: Absence of dystrophin leads to disruption of linkages in cytoskeleton of cell membrane. This
leads to membrane microtears and increased calcium channel leaks leading to necrosis of the cell.

77
Q

According to Molnar, the age of onset in 74 – 80% of DMD cases is around ___ years old

A

Four

78
Q

Duchenne muscular dystrophy is a progressive disease in which the child becomes weaker and usually dies of what two reasons in their late teens or early 20s?

A

Respiratory infection or cardiorespiratory insufficiency

79
Q

In pseudohypertrophic muscular dystrophy, there is an appearance of large ____ muscles. Upon muscle biopsy, it was detected that most of these muscles were replaced by fat, adipose, and connective tissue.

A

calf

79
Q

Duchenne muscular dystrophy is also known as?

A

pseudohypertrophic
muscular dystrophy

80
Q

Most Duchenne muscular dystrophy cases are caused by a recessive sex-linked gene located on which chromosome and is carried only by females?

A

chromosome Xp21

81
Q

Duchenne muscular dystrophy was first
described by this French physician in 1861

A

Guillaume Benjamin Amand Duchenne

82
Q

Most common form of muscular dystrophy & most commonly encountered genetic pediatric neuromuscular condition.

A

Duchenne muscular dystrophy

83
Q

A group of
inherited, primary diseases of muscle
characterized by progressive loss of
strength in specific muscle groups.

A

Muscular dystrophies

84
Q

Identify the muscles involved in facial weakness seen in Fascioscapulohumeral Muscular Dystrophy

A

orbicularis oculi, zygomaticus,
and orbicularis oris

Note: Patients present with expressionless appearance, difficulty in whistling, pursing lips, drinking through a straw or smiling.

85
Q

____ deficiency at the plasma membrane of muscle disrupts membrane cytoskeleton and leads to secondary loss of other components of muscle cytoskeleton in Duchenne Muscular Dystrophy.

A

Dystrophin

86
Q

Protein that causes membrane instability
leading to membrane injury and aggressive fibrotic replacement of muscle and
eventually there is failure of regeneration with muscle fiber death and loss.

A

Dystrophin

86
Q

A clinical presentation of DMD that causes wide arch to mandible and maxilla with separation of teeth

A

Macroglossia (enlarged tongue)

87
Q

TRUE OR FALSE: The Dystrophin isoform is present in the brain, which may be associated with mild mental retardation noted in some boys with Duchenne dystrophy that falls between the mildly impaired or impaired
range.

A

True

88
Q

Patients with Becker dystrophy have defects in the dystrophin gene (Xp21), with usually smaller or larger molecular weight of dystrophy with decreased quantities. Patients with Duchenne dystrophy have the same defect in Xp21 and dystrophin is absent.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

C. Both statements are true

89
Q

Dystrophy presenting with gradual proximal weakness (LE initially with gradual involvement of pectoral and UE at 10 – 20 years from onset). Extensors are weaker than flexors.

A

Becker Muscular Dystrophy

90
Q

TRUE OR FALSE: CPK may be elevated in Becker dystrophy.

A

True

91
Q
  1. Duchenne dystrophy
  2. Becker dystrophy
  3. Severe childhood autosomal recessive muscular dystrophy
  4. Fascioscapulohumeral muscular dystrophy
  5. Emery Dreifuss muscular dystrophy

A. Autosomal recessive
B. Autosomal dominant
C. Both A and B
D. X-linked dominant
E. X-linked recessive

A
  1. E
  2. E
  3. A
  4. B
  5. E
92
Q
  1. Limb girdle muscular dystrophy
  2. Mini-core disease
  3. Nemaline or Rod Body Myopathy
  4. Central core myopathy
  5. Severe x-link myotubular myopathy

A. Autosomal recessive
B. Autosomal dominant
C. Both A and B
D. X-linked dominant
E. X-linked recessive

A
  1. C
  2. A
  3. A (some autosomal dominant*)
  4. B
  5. E
93
Q
  1. Myotubular myopathy (Centronuclear myopathy)
  2. Congenital fiber type disproportion
  3. Myotonic muscular dystrophy
  4. Myotonia congenita / Thomsen’s
  5. Paramyotonia congenita
  6. Schwartz Jampel Syndrome

A. Autosomal recessive
B. Autosomal dominant
C. Both A and B
D. X-linked dominant
E. X-linked recessive

A
  1. B
  2. C
  3. B
  4. B
  5. B
  6. A
93
Q

An early onset variant of FSHMD with sensory neural hearing deficit and presents with myopathy in infancy and progresses fairly rapidly. Individuals become wheelchair reliant by late 2nd and 3rd decade.

A

Coat’s syndrome

Distinguishing
characteristic of the coat’s syndrome is deafness (sensory neural hearing deficit)

94
Q

In Fascioscapulohumeral Muscular Dystrophy:
Cardiac problems are rare. Contractures are relatively common.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

A. Only the 1st statement is true

95
Q

In Fascioscapulohumeral Muscular Dystrophy:
Spinal deformities such as scoliosis and hyperlordosis may occur. Patients with FSHMD may also have mild restrictive lung disease.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

C. Both statements are true

96
Q

Muscles first affected

  1. Proximal shoulder and pelvic girdle muscles
  2. Face and shoulder girdle muscles
  3. Face, feet, hands, front of neck muscles
  4. Muscles of upper arms & lower legs. Usually UE is affected or both UE and LE

A. Emery Dreifuss Muscular Dystrophy
B. Limb Girdle Muscular Dystrophy
C. Myotonic Muscular Dystrophy
D. Fascioscapulohumeral Muscular Dystrophy

A
  1. B
  2. D
  3. C (primarily affecting hand and feet muscles)
  4. A
97
Q

Hallmark of Emery Dreifuss Muscular Dystrophy

A

contracture of elbow flexors

98
Q

Emery Dreifuss Muscular Dystrophy presents with tight cervical and lumbar spinal ___ muscle resulting in limitation of neck and trunk flexion; unable to flex chin to sternum or touch toes.

A

extensor

99
Q

Congenital myopathies may be differentiated diagnostically through morphologic characteristics using electron microscope, enzyme histochemistry, immunocytochemistry, and molecular analysis. The mode of inheritance and gene loci are variable.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

C. Both statements are true

99
Q

The first report of a congenital myopathy was of a patient with ____ disease in 1956.

A

central core

100
Q

TRUE OR FALSE: In congenital myopathies, laboratory workups show
low, normal, or mildly elevated CPK because patients do not lose muscle fibers as in the case of dystrophic myopathies. EMG and NCV studies are also normal or may have mild, nonspecific changes of myopathic character.

A

True

101
Q

Congenital myopathies are (1)___ disorders presenting with infantile hypotonia due to genetic defects causing myopathies with the absence of any structural abnormality of the CNS or PNS. Infants develop (2)______ weakness predominantly in the limb girdle distribution.

A
  1. heterogenous
  2. symmetrical proximal

Note: It’s important to rule out cerebral palsy and any PNS weakness (e.g., Guillain Barre Syndrome)

101
Q

TRUE OR FALSE: Congenital myopathies are non-progressive and static.

A

True

102
Q

Gold standard laboratory procedure used in Congenital Myopathies to see the ultra structure of the muscle and see which organelle is absent.

A

Muscle Biopsy

103
Q

TRUE OR FALSE: Genetic studies are not required for diagnosis of congenital myopathies.

A

True

103
Q

Wasting of the upper arm and shoulder muscles is typical in Fascioscapulohumeral dystrophy. The weakness can spread to the muscles of abdomen, feet, upper arms, pelvic area, and lower arms.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

C. Both statements are true

104
Q

Identify the UE muscles involved in Fascioscapulohumeral dystrophy

A

trapezius, rhomboids, serratus anterior,
latissimus dorsi

104
Q

In Fascioscapulohumeral dystrophy, manifestations are muscle atrophy and scapular displacement laterally that gives the shoulder a ______ appearance.

A

forward sloped

Note: The scapular bones look like wings when their arms are raised.

105
Q

A complication of DMD is contractures common in children over ___ years old.

A

13

NOTE: The ankle plantar flexor, knee flexor, hip flexor, iliotibial band, elbow flexor and wrist flexor muscles are involved.

106
Q

Some complications of DMD are the presence of ____ (usually seen between 12-15 years old), bed sores, and respiratory tract infection.

A

scoliosis

107
Q

TRUE OR FALSE: Muscle pain is one of the clinical presentations of Duchenne muscular dystrophy.

A

True

108
Q

In Duchenne muscular dystrophy, each son of a carrier has a 75% chance of inheriting the gene and developing the disease. Each daughter has a 50% chance of inheriting the gene and becoming a carrier.
A. Only the 1st statement is true
B. Only the 2nd statement is true
C. Both statements are true
D. Both statements are false

A

B. Only the 2nd statement is true

each son of a carrier has a 50% chance

Note: In a small number of “sporadic” cases, there is no family history.

109
Q

TRUE OR FALSE: Cardiac abnormalities can manifest from DMD because dystrophic protein is present in both the myocardium and cardiac Purkinje fibers.

A

True

110
Q

Sex affected by the ff Motor Neuron Diseases

  1. Fascioscapulohumeral muscular dystrophy
  2. Duchenne muscular dystrophy
  3. Severe childhood autosomal recessive muscular dystrophy (SCARMD)
  4. Limb Girdle Muscular Dystrophy

A. Female
B. Male
C. Female and Males

A
  1. C
  2. B
  3. C
  4. C
111
Q

Sex affected by the ff Motor Neuron Diseases

  1. Myotonic muscular dystrophy
  2. Becker muscular dystrophy
  3. Emery Dreifuss muscular dystrophy

A. Female
B. Male
C. Female and Males

A
  1. C
  2. B
  3. B
112
Q

Severe childhood autosomal recessive muscular dystrophy (SCARMD) affects proximal or distal muscles?

A

Proximal

113
Q

Age of onset

  1. Fascioscapulohumeral muscular dystrophy
  2. Emery Dreifuss muscular dystrophy
  3. Limb Girdle Muscular Dystrophy
  4. Myotonic muscular dystrophy
  5. Congenital form of myotonic muscular dystrophy

A. Early childhood or adolescence or early adulthood (Later onset)
B. Early childhood to
adulthood
C. Newborn period
D. Childhood and adulthood
E. Teens or early adulthood

A
  1. E
  2. A
  3. D
  4. B
  5. C
114
Q

Progression

  1. Severe childhood autosomal recessive muscular dystrophy (SCARMD)
  2. Fascioscapulohumeral muscular dystrophy
  3. Emery Dreifuss muscular dystrophy
  4. Limb Girdle Muscular Dystrophy
  5. Myotonic muscular dystrophy

A. Slow
B. Slow, sometimes with rapid spurts
C. Rapid

A
  1. A
  2. B
  3. A
  4. A
  5. A
115
Q

Most common form of myotonic muscular dystrophy

A

adult (onset) form

116
Q

age of onset of Severe childhood autosomal recessive muscular dystrophy (SCARMD)

A

3-12 years old

117
Q
  1. Toe walk is due to weakness of dorsiflexors
  2. Age of onset: early childhood (2-6)
  3. Proximal muscles; LE> UE
  4. Lack of emerin
  5. Life expectancy: rarely beyond 20s

A. Duchenne muscular dystrophy
B. Emery Dreifuss muscular dystrophy

A
  1. B
  2. A
  3. A
  4. B
  5. A
118
Q
  1. X- link, Xp21
  2. Selective scapulohumeral peroneal distribution weakness by sparing
    deltoid and forearm muscle
  3. Toe walk is due to compensatory strategy to stabilize knee because of proximal weakness
  4. usually UE first affected, then LE

A. Duchenne muscular dystrophy
B. Emery Dreifuss muscular dystrophy

A
  1. A
  2. B
  3. A
  4. B
119
Q

TRUE OR FALSE: Life threatening heart problems, such as cardiomyopathy and arrhythmia are common in Emery Dreifuss muscular dystrophy.

A

True

Additional: Patients with EDMD may show evidence of nocturnal hypoventilation due to restrictive expansion of chest

120
Q

Emery Dreifuss muscular distrophy is a rare form of muscular dystrophy where weakness generally starts in the shoulders, upper arms and lower legs (scapulohumeral and peroneal distribution). Weakness may spread to involve the muscles of ____ and ____ area.

A

chest and pelvic

121
Q

Pathology of this muscular dystrophy is an abnormality in dystrophin associated glycoprotein

A

Severe childhood autosomal recessive muscular dystrophy (SCARMD)

121
Q

TRUE OR FALSE: The spinal deformities and restrictive pulmonary insufficiencies in Severe childhood autosomal recessive muscular dystrophy (SCARMD) are less problematic / severe than those of Duchenne muscular dystrophy.

A

True

122
Q

Severe childhood autosomal recessive muscular dystrophy (SCARMD) also presents with calf hypertrophy & (+) Gower’s. Patients with this type of dystrophy experience a loss of ___ between 10- 20 years old.

A

ambulation

123
Q

Natural occurring substance used by body builders to increase muscle performance in DMD

A

Creatine monohydrate

124
Q

Treatment procedure theorized and aimed to replace missing dystrophin in patients with DMD

A

Myoblast transplant

125
Q

This type of medicine given between 6 months to 2 years has shown to improve function and keep those affected with DMD “stronger for longer”.

A

Glucocorticoid corticosteroids

126
Q

TRUE OR FALSE: There is no definitive and no pharmaceutical treatment for Duchenne muscular dystrophy, only supportive treatments may be done.

A

True

126
Q

Orthopedic treatment for scoliosis in DMD indicated for patients with difficulty with bracing, skin breakdown, discomfort and decrease tolerance in sitting, and a lack of trunk stability. The goal of this procedure is to provide a stable spine and maximally correct scoliosis.

A

spinal fixation

127
Q

Most common cause of death in Duchenne Muscular Dystrophy

A

Respiratory problems

(3) MS: Pediatric Conditions (11 decks)

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