Test 12-13

Questions marked with * are more appropriate for residents.

1. Rheumatoid arthritis can cause:

A. Interstitial inflammation
B. Vasculitis
C. Type 2 atrophy
D. All of the above
2. In denervation, the atrophic fibers are predominantly:

A. Type 1
B. Type 2
C. Both types
3. CK of 4500 is most likely seen in:

A. A 3 month-old severely hypotonic infant with fasciculations
B. A 46 year-old woman with arthritis, neuropathy, and multi-organ involvement
C. A 27 year-old man with severe proximal weakness who has a brother with a similar illness
D. A 61 year-old man with advanced diabetes mellitus
4. A 61 year-old man developed hoarseness and subsequently weakness of the grip of one hand, then the other. Weakness progressed over 3 months. Sensation is normal and CK is normal. A quadriceps muscle biopsy is shown. The most likely cause of the illness is:
ALS
A. A CTG trinucleotide expansion
B. A sporadic neurodegenerative disease
C. An autosomal dominant motor neuropathy
D. A neuropathy associated with an occult carcinoma
5. Patients with congenital muscular dystrophy frequently also have:

A. Congenital heart disease
B. Eye abnormalities
C. Skeletal dysplasia
D. All of the above
6. The most common cause of neuropathy in adults over 50 years is:

A. Collagen vascular disease
B. Diabetes mellitus
C. Exposure to environmental toxins
D. Cancer
7. Severe hypotonia in the neonatal period can be caused by:

A. Pachygyria
B. Spinal muscular atrophy
C. Perinatal asphyxia
D. All of the above
8. Severe hypotonia in the neonatal period is caused by a mutation or abnormality involving all of the following except:

A. Merosin
B. Sarcoglycan
C. Alpha actinin
D. SMN gene
9. A 3 year-old boy with weakness, seizures, and psychomotor retardation had the muscle biopsy shown below.
mitochondrial myopathy
Abnormal laboratory studies include all of the following except:

A. Elevated serum lactate
B. Abnormal liver function tests
C. Elevated ammonia
D. Elevated alanine
10. The pathological changes in muscle shown below occur in patients with mitochondrial myopathies due to:
Ragged red fiber
A. Mitochondrial DNA mutations
B. Mitochondrial myopathies due to nuclear gene mutations
C. Both
11. A 60 year-old woman has proximal weakness and a CK of 1800. The most likely cause is:

A. Diabetic neuropathy
B. Collagen vascular disease with vasculitis
C. Polymyositis
D. A mutation of gamma sarcoglycan
12. Which of the following is a trinucleotide repeat disorder?

A. Spinal muscular atrophy
B. Myotonic dystrophy
C. Fascioscapulohumeral dystrophy
D. Limb girdle dystrophy
13. Dystrophin is located:

A. In the extracellular matrix
B. In the sarcolemma (transmembrane)
C. Inside the sarcolemma
D. Between contractile filaments
14. Severe limb girdle muscle dystrophy may result from mutations of:

A. Merosin
B. Sarcoglycan
C. Dystrophin
D. Desmin
15. A baby boy who was severely hypotonic since birth died of respiratory insufficiency at 4 months of age. The muscle biopsy (ATPase stain) is shown below.
Spinal muscular atrophy
The risk of subsequent siblings developing the same condition is:
A. 3%
B. 25%
C. 50%
D. 50% in males only
16. Which of the following is caused by T-cells attacking myofibers:

A. Dermatomyositis
B. Polymyositis
C. Inclusion body myositis
D. Rheumatoid arthritis
17. The illustrated pathology occursin all of the following neuropathies except:
Charcot-Marie-Tooth disease
A. Dejerine-Sottas disease
B. Diabetic neuropathy
C. Charcot-Marie-Tooth disease
D. Chronic inflammatory demyelinative neuropathy
18. If a transected nerve is promptly and precisely reconnected:

A. The reconnected axons function properly within days.
B. The distal portion of the axons degenerate.
C. Schwann cells distal to the transection degenerate.
D. The neuronal body dies.
19. The highest CSF protein is seen in:

A. The Guillain-Barré Syndrome
B. Diabetic neuropathy
C. Charcot-Marie-Tooth disease
D. Polyarteritis nodosa with vasculitic neuropathy
20. The pathology illustrated in this nerve biopsy (thick epoxy section, toluidin blue stain) is caused by:
Charcot-Marie-Tooth disease
A. Transthyretin mutation
B. Mitochondrial DNA mutations
C. A gene duplication
D. Lysosomal enzyme deficiency
21.The slowest nerve conduction velocity is seen in:

A. Diabetic neuropathy
B. Charcot-Marie-Tooth disease
C. The Guillain-Barré Syndrome
D. Amyloid neuropathy
22. Which of the following shows beta amyloid and tau deposits in muscle?

A. Polymyositis
B. Dermatomyositis
C. Inclusion body myositis
D. Alzheimer's disease
23. The pathology in this muscle biopsy is from:
Dermatomyositis
A. A 54 year-old man with proximal weakness and a CK of 2700
B. A 4 year-old boy with weakness, GI bleed, and CK of 2600
C. A 49 year-old woman with longstanding rheumatoid arthritis, neuropathy, and multiorgan involvement.
D. An 83 year-old woman with proximal and distal weakness for 8 years and a CK of 600.
24. The illustrated findings are most consistent with:
Myotonic dystrophy
A. Autosomal dominant inheritance
B. Autosomal recessive
C. X-linked
D. Sporadic
25. CTG expansion in a neonate is manifested by:

A. Hypotonia with a normal brain MRI
B. Spasticity with a normal brain MRI
C. Arthrogryposis with a normal brain MRI
D. Hypotonia with pachygyria and ventriculomegaly
26. The pathology illustrated below is caused by:
centronuclear myopathy
A. Trinucleotide expansion
B. X-linked inheritance
C. A glycosylation defect
D. A lysosomal abnormality

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