S3_L2: Neuromuscular Diseases part 2

Question 1

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

Answer 1

A. 1

Question 2

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

Answer 2

B. 2

Question 3

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

Answer 3

C. 3

Question 4

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

Answer 4

D. 4

Question 5

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

Answer 5

E. 5

Question 5

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

Answer 5

F. 6

Question 6

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

Answer 6

A. 1

Question 7

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

Answer 7

B. 2

Question 8

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

Answer 8

C. 3

Question 9

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

Answer 9

D. 4

Question 10

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

Answer 10

E. 5

Question 11

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

Answer 11

A. 6

Question 12

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

Answer 12

D. 9

Question 13

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

Answer 13

C. 8

Question 14

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

Answer 14

E. 10

Question 15

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

Answer 15

B. 7

Question 16

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

Answer 16

1. A
2. B
3. C

Question 17

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

Answer 17

1. A
2. A
3. B

Question 18

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

Answer 18

1. B
2. A
3. B

Question 19

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

Answer 19

1. B
2. A
3. A

Question 20

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

Answer 20

1. C
2. A
3. C

Question 21

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

Answer 21

1. B
2. A
3. B

Question 22

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

Answer 22

1. A
2. C
3. B

Question 23

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.

Answer 23

True

Question 24

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

Answer 24

Congenital muscular dystrophy

Question 25

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.

Answer 25

True

Question 26

Enumerate the 3 X-linked muscular dystrophies.

Answer 26

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

Question 27

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

Answer 27

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

Question 28

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

Answer 28

Limb Girdle Muscular Dystrophy

Question 29

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

Answer 29

Type 1

Question 30

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

Answer 30

1. A 2. C 3. B

Question 31

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

Answer 31

1. B 2. C 3. A

Question 32

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

Answer 32

1. C 2. A 3. B

Question 33

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

Answer 33

1. B 2. A 3. A

Question 34

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

Answer 34

1. C 2. B

Question 35

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

Answer 35

1. B 2. C 3. A

Question 36

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

Answer 36

1. B 2. A 3. C

Question 37

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

Answer 37

Central Core Myopathy

Question 37

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

Answer 37

1. B 2. A 3. B 4. B

Question 38

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

Answer 38

1. A 2. B 3. A 4. A

Question 39

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

Answer 39

True

Question 40

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

Answer 40

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

Question 41

Myotonic muscular dystrophy is also known as?

Answer 41

Steinert’s disease

Question 42

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

Answer 42

1. D 2. E

Question 43

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

Answer 43

1. C 2. D

Question 44

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

Answer 44

1. A 2. B

Question 45

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

Answer 45

1. A 2. D

Question 46

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

Answer 46

1. D 2. A

Question 47

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

Answer 47

1. A 2. D

Question 48

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

Answer 48

1. B 2. A

Question 49

Myotonia congenita is also known as?

Answer 49

Thomsen's disease

Question 49

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

Answer 49

1. A 2. A

Question 50

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

Answer 50

Becker form/disease

Question 51

Myotonic Congenita and Paramyotonia Congenita are both aggravated by ___.

Answer 51

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

Question 52

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

Answer 52

Both sexes

Question 52

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

Answer 52

C. Acquired Botulism

Question 53

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

Answer 53

C. Acquired Botulism

Question 54

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

Answer 54

E. Autoimmune Myasthenia Gravis

Question 55

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

Answer 55

E. Autoimmune Myasthenia Gravis

Question 56

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

Answer 56

B. Congenital Myasthenia Syndromes

Question 57

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

Answer 57

B. Congenital Myasthenia Syndromes

Question 58

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

Answer 58

A. Transient Neonatal Myasthenia

Question 59

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

Answer 59

A. Transient Neonatal Myasthenia

Question 60

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

Answer 60

1. D 2. A

Question 61

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

Answer 61

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.

Question 62

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

Answer 62

f. None of the above

Question 63

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

Answer 63

B. Only the 2nd statement is true Severe respiratory and heart problems mark the disease's later/final stages.

Question 64

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

Answer 64

e. None of the above

Question 65

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.

Answer 65

1. knee extensor 2. lordotic

Question 66

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

Answer 66

True

Question 67

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

Answer 67

hip extensor, knee extensors, and neck flexors

Question 68

Identify the muscles spared in Fascioscapulohumeral Muscular Dystrophy

Answer 68

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

Question 69

Third most common muscular dystrophy

Answer 69

Fascioscapulohumeral Muscular Dystrophy

Question 70

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.

Answer 70

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

Question 71

A protein and gene located on chromosome Xq28

Answer 71

Emerin

Question 72

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

Answer 72

X chromosome (Xq28)

Question 73

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

Answer 73

chromosome 4p35

Question 73

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

Answer 73

Difficulty climbing steps

Question 74

Identify the most frequent presenting symptoms of Duchenne muscular dystrophy

Answer 74

abnormal gait, frequent falls, and difficulty climbing steps

Question 75

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

Answer 75

True

Question 75

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

Answer 75

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

Question 76

____ 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.

Answer 76

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.

Question 77

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

Answer 77

Four

Question 78

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?

Answer 78

Respiratory infection or cardiorespiratory insufficiency

Question 79

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.

Answer 79

calf

Question 79

Duchenne muscular dystrophy is also known as?

Answer 79

pseudohypertrophic muscular dystrophy

Question 80

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

Answer 80

chromosome Xp21

Question 81

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

Answer 81

Guillaume Benjamin Amand Duchenne

Question 82

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

Answer 82

Duchenne muscular dystrophy

Question 83

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

Answer 83

Muscular dystrophies

Question 84

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

Answer 84

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

Question 85

____ 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.

Answer 85

Dystrophin

Question 86

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.

Answer 86

Dystrophin

Question 86

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

Answer 86

Macroglossia (enlarged tongue)

Question 87

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.

Answer 87

True

Question 88

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

Answer 88

C. Both statements are true

Question 89

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.

Answer 89

Becker Muscular Dystrophy

Question 90

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

Answer 90

True

Question 91

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

Answer 91

1. E 2. E 3. A 4. B 5. E

Question 92

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

Answer 92

1. C 2. A 3. A (some autosomal dominant*) 4. B 5. E

Question 93

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

Answer 93

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

Question 93

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.

Answer 93

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

Question 94

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

Answer 94

A. Only the 1st statement is true

Question 95

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

Answer 95

C. Both statements are true

Question 96

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

Answer 96

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

Question 97

Hallmark of Emery Dreifuss Muscular Dystrophy

Answer 97

contracture of elbow flexors

Question 98

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.

Answer 98

extensor

Question 99

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

Answer 99

C. Both statements are true

Question 99

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

Answer 99

central core

Question 100

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.

Answer 100

True

Question 101

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.

Answer 101

1. heterogenous 2. symmetrical proximal Note: It's important to rule out cerebral palsy and any PNS weakness (e.g., Guillain Barre Syndrome)

Question 101

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

Answer 101

True

Question 102

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

Answer 102

Muscle Biopsy

Question 103

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

Answer 103

True

Question 103

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

Answer 103

C. Both statements are true

Question 104

Identify the UE muscles involved in Fascioscapulohumeral dystrophy

Answer 104

trapezius, rhomboids, serratus anterior, latissimus dorsi

Question 104

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

Answer 104

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

Question 105

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

Answer 105

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

Question 106

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

Answer 106

scoliosis

Question 107

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

Answer 107

True

Question 108

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

Answer 108

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.

Question 109

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

Answer 109

True

Question 110

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

Answer 110

1. C 2. B 3. C 4. C

Question 111

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

Answer 111

1. C 2. B 3. B

Question 112

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

Answer 112

Proximal

Question 113

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

Answer 113

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

Question 114

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

Answer 114

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

Question 115

Most common form of myotonic muscular dystrophy

Answer 115

adult (onset) form

Question 116

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

Answer 116

3-12 years old

Question 117

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

Answer 117

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

Question 118

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

Answer 118

1. A 2. B 3. A 4. B

Question 119

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

Answer 119

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

Question 120

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.

Answer 120

chest and pelvic

Question 121

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

Answer 121

Severe childhood autosomal recessive muscular dystrophy (SCARMD)

Question 121

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.

Answer 121

True

Question 122

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.

Answer 122

ambulation

Question 123

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

Answer 123

Creatine monohydrate

Question 124

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

Answer 124

Myoblast transplant

Question 125

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”.

Answer 125

Glucocorticoid corticosteroids

Question 126

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

Answer 126

True

Question 126

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.

Answer 126

spinal fixation

Question 127

Most common cause of death in Duchenne Muscular Dystrophy

Answer 127

Respiratory problems