Neuropathy/NMJ Flashcards
1
Q
Genetic abnormality in ALS
A
SOD1
C9orf72 * FTD
2
Q
Age at presentation of ALS
A
7th decade
3
Q
Genetic abnormality in SMA
A
SMN1
4
Q
Genetic abnormality in Kennedy’s Disease
A
Androgen Receptor Gene
5
Q
Age at presentation of Kennedy’s
A
3rd-4th decade
6
Q
Epidemiology and presentation of Hirayama
A
18-25 yo
Athletic males
U/l hand weakness
C8-T1 myotomes
ALS-like
7
Q
Genetic abnormality in HSMN1 / CMT1
A
PMP22 DUPLICATION
8
Q
Genetic abnormality in HNPP
A
PMP22 DELETION
9
Q
Mode of inheritance of HSMNs:
Except:
A
HSMN: AD
Except HSMN 10, X
10
Q
Mode of inheritance of HSANs:
Except:
A
HSAN: AR
Except: HSAN 1: AD
11
Q
Clinical presentation of lead toxicity
A
Motor predominant; wrist drop
12
Q
Clinical presentation of mercury toxicity
A
Motor neuropathy; tremor
13
Q
Clinical presentation of arsenic toxicity
A
Painful sensory neuropathy; GI tract upset
14
Q
Clinical presentation of Thallium toxicity
A
Painful sensory neuropathy; alopecia
15
Q
Clinical presentation of Vitamin B6 toxicity
A
Painful sensory neuropathy
16
Q
What is POEMS syndrome
A
Polyneuropathy Organomegaly Endocrinopathy Monoclonal Protein Skin changes
17
Q
Painful, rapidly progressive polyradiculopathy with
weight loss, fever, night sweats
A
Neurolymphomatosis
18
Q
Paraneoplastic neuropathy usually associated with wc cancer and antibodies?
A
Small cell lung CA
Anti-Hu (ANNA 1 and 2)
19
Q
Painful sensory and autonomic neuropathy; can
present with carpal tunnel syndrome
A
Primary amyloidosis
20
Q
What is Erb palsy?
A
Traumatic plexopathy
Involves upper trunk of the brachial plexus
Related to stretch injury at birth
C/p: Waiter’s tip sign (C5-C6)
For those w C8-T1 injury: Klmupke palsy -> clawhand
21
Q
Traumatic plexopathies often involve the upper/lower trunk
A
Upper trunk
22
Q
What is Erb Palsy?
A
Traumatic plexopathy
Involves upper trunk, brachial plexus
2/2 stretch injury at birth
C5-C6: waiter’s tip
C8-T1: clawhand
23
Q
Neoplastic Plexopathies involve the upper/lower brachial plexus
A
Lower brachial plexus
24
Q
Common causes of neoplastic plexopathies (2)
A
Pancoast tumor (direct extension of primary lung tumor)
Mets (breast, lung from LN)
25
Presentation of neoplastic plexopathies
Painful, rapidly progressive
26
Presentation of radiation-induced plexopathies
Painless, slowly progressive
| (+) Myokymic discharges
27
Clinical presentation of inflamatory plexopathies
Acute-subacute onset of pain -> weakness, atrophy
Patchy
Pure motor nerves involved
-LTN, interosseous nerves
28
CSF and NCS findings of AIDP
CSF: cytoalbuminologic dissociation
NCS: loss of F waves
29
CSF and NCS findings of CIDP
CSF: cytoalbuminologic dissociation
NCS: demyelination, conduction block, temporal dispersion
30
NCS findings of multifocal motor neuropathy
NCS: conduction block
31
Who is affected by diabetic amyotrophy and how does it present?
Newly diagnosed or mild DM and weight loss
Nerve pain, asymmetric weakness and atrophy of proximal muscles
MC: quadriceps
Nerve biopsy: microvasculitis, ischemic injury
32
Most common cause of ulnar mononeuropathy
Mechanical compression or arthritis at the ulnar groove or cubital tunnel
33
Most common affected nerve in highly restricted forms of Parsonage Turner Syndrome
Long thoracic nerve -> serratus anterior palsy
34
Re peroneal mononeuropathy:
A) Usual cause?
B) Most commonly affected branch? Presentation?
C) If this muscle is abnormal on EMG, a sciatic neuropathy must be considered instead - this is proximal to the common peroneal nerve
A) Fibular neck 2/2 compression, trauma
B) Deep peroneal branch -> foot drop
C) Short head, biceps femoris
35
What are:
A) Most common nerve roots affected by intervertebral disk extrusions
B) Most common radiculopathy, cervical
C) Most common radiculopathy, lumbosacral
A) C5-C7
B) C7
C) L5
36
Re Spinal Stenosis, what are the:
A) Clinical presentation
B) Aggravating factors
C) Relieving factors
A) Neurogenic claudication and chronic back and leg pain
B) Walking, prolonged standing
C) Sitting or leaning forward
37
Earliest symptoms in GBS
Paresthesias and slight numbness in the toes and fingers
38
Distinct clinical and diagnostic findings of the Acute Axonal Form of GBS
Muscle atrophy apparent early
| (+) Numerous electrically excitable motor nerves + extensive denervation
39
Acute Axonal Forms of GBS are triggered largely by _____
C. Jejuni infections
40
GBS with acute multifocal neuropathy w/ motor conduction block with intact reflexes has high titers of _____
Anti-GM1 antibody
41
Ophthalmoplegia in GBS is associated with which antineural antibodies?
Anti-GQ1b
42
Associated antibodies w/ GBS variants
A) Fisher syndrome or other ophthalmoplegic variants
B) Acute Motor Axonal Variant
C) Pharyngeal-cervical-brachial syndrome
A) Fisher syndrome or other ophthalmoplegic variants - GQ1b
B) Acute Motor Axonal Variant - GM1, GD1a
C) Pharyngeal-cervical-brachial syndrome - GT1a
43
Which antibodies a/w GBS are usually seen in cases that follow Campylobacter infections?
Anti-GM1 antibodies
44
Usual presentation of diabetic ophthalmoplegia
Isolated, PAINful 3rd nerve palsy w/ spared pupillary function
45
Most frequently affected peripheral nerve of diabetic neuropathy
MC: Femoral nerve
2) Sciatic
3) Peroneal
46
Focal degeneration of the myelin sheath with sparing of the axon
Segmental demyelination
47
A reaction of BOTH the AXON and the MYELIN DISTAL to the site of disruption of the axon
Wallerian degeneration
48
Dying back phenomenon
Axonal degeneration
49
What is chromatolysis?
Highly characteristic histopathologic changes in the nerve cell body
Changes:
Swelling of cytoplasm
Marginalization, dissolution of Nissl substance
Cause:
Consequence of axonal interruption
50
True or false. Recovery of function is SLOWEST in segmental demyelination.
False.
Segmental demyelination - rapid recovery of function
51
The nutritional, metabolic, and toxic neuropathies assume a predominantly ________ pattern.
What is a known exception? (Adams)
Nutritional, metabolic, toxic neuropathies: Distal “axonal” pattern
Exception: porphyria - axonal, w/ proximal instead of distal weakness
52
Maximum degree of denervation atrophy after an acute injury to the axons occurs in ______ days and reduces muscle volume by ____%
90-120 days
75-80%
53
Treatment for LEMS
3,4 Diaminopyridine
| blocks presynaptic K channels
54
As a rule, neuropathies are associated w/ a reduction or loss of tendon reflexes. What is a known exception? (Adams)
Small-fiber neuropathies
55
Which anti TB drug is known to cause peripheral neuropathy?
| How do you prevent this?
Isoniazid
| Administer pyridoxine daily
56
Which aspect of having DM is the most important factor in the development of Diabetic Neuropathy?
Duration of diabetes
57
Causes of radial nerve mononeuropathy?
Crutches
Humeral fracture
Saturday night palsy
58
Match letters to numbers
A) MG
B) LEMS
C) Botulism
1. Presynaptic
2. Postsynaptic
3. Presynaptic, ANS
MG - postsynaptic
LEMS - presynaptic
Botulism - presynaptic, ANS
59
Immune mechanisms in
A) MG
B) LEMS
C) Botulism
MG - T-cell, ACh receptor antibodies, musk antibodies
LEMS - P/Q Ca channel antibodies
Botulism - botulinum toxin -> SNARE
60
Epidemiology of MG
Bimodal
Young - F
Older - M
61
Ca associated with LEMS
Small Cell Lung CA
62
Types of botulism
Infantile
Foodborne
Wound
Adult infectious
63
RNS findings in LEMS
Low stimulation: decrement in CMAP
| high frequency stimulation: increment in CMAP
64
In MG, those who are acherase negative and MuSK (+) are likely to be from which population?
Females and adolescents
65
Focal degeneration of the myelin sheath with sparing of the axon
Segmental demyelination
66
Reaction of both the axon and myelin distal to the site of disruption of the axon
Wallerian degeneration
67
What is chromatolysis
Highly characteristic histopathologic changes in the nerve cell body
2/2 axonal interruption
Swelling of the cell cytoplasm
Marginalization and dissolution of the Nissl substance
68
True or false: Recovery of function in segmental demyelination is slow.
False
69
Nutritional, metabolic, and toxic neuropathies assume predominantly ______ patterns.
Exception:
Distal "axonal" patterns
Porphyria
70
Maximum degree of denervation atrophy after an acute injury to the axons occurs in ____ days and reduces muscle volume by ____%
90-120 days
75-80%
71
Neuropathies are associated with a reduction or loss of tendon reflexes. An exception is the group of ______
Small-fiber neuropathies
72
Attack rates of GBS highest in what age group
50-74 years
73
Characteristics of neuropathy associated with porphyria
Predominant motor neuropathy
| Early bibrachial distribution of weakness, truncal sensory loss
74
Most common form of neuropathy for paraneoplastic disorders
MC: Mixed sensorimotor PN
75
Specific type of paraneoplastic neuropathy related to lung CA
Purely sensory PN
76
Which TB drug commonly causes polyneuropathy?
How do you prevent this?
Isoniazid
Give IV Pyridoxine
77
Most important factor for diabetics in developing diabetic PN?
Duration of DM
78
Most common clinical syndrome of DM PN?
Distal, symmetrical, primarily sensory PN
79
Which of the following is NOT true of DM PN's pathophysiology
A) Ischemic 2/2 vasculopathy of the tunica media
B) Fascicular capillaries and epineural arterioles have thickened and hyalinized basement membranes
C) Reduction in trophic factors within diabetic nerves (NGF, VEGF< erythropoietin)
D) None (all are true)
A) Ischemic 2/2 vasculopathy of the VASA NERVORUM
80
This syndrome presents as searing and pulling sensations involving small cutaneous areas, that are evoked by extending or stretching the limb, as happens when reaching for an object, kneeling, or pointing with the foot
Migratory Sensory Neuritis
| Wartenberg Syndrome
81
The following are associated with polyneuropathy + paraproteinemia EXCEPT:
a) Multiple Myeloma
B) Plasmacytoma
C) Waldenstrom macroglobulinemia
D) None of the above (all are a/w)
D) None of the above
82
What is the most frequent paraprotein in adults?
A polyneuropathy is associated with which paraprotein more commonly?
IgG - most frequent pp in adults
IgM - pp + polyneuropathy
83
Re myelomatous neuropathy:
Abnormal monoclonal globulin with the ____ chain component is found in:
Multiple Myeloma
Osteosclerotic Myeloma
Multiple Myeloma - kappa light chain
Osteosclerotic Myeloma - lambda light chain
84
Waldenstrom macroglobulinemia is associated with a monoclonal increase in?
A) IgG plasma fraction
B) IgM plasma fraction
C) IgA plasma fraction
D) None of the above
B) IgM plasma fraction
1/2 will have specific anti-MAG antibodies
85
A few patients with Waldenström hyperproteinemia have a hyperviscosity state manifest by diffuse slowing of the retinal and cerebral circulations, giving rise to episodic confusion, coma, impairment of vision, and sometimes strokes. What do you call this syndrome?
Bing-Neel syndrome
86
Which of the following is TRUE of CIDP?
A) Symmetric, involving the lower extremities
B) Associated with c. jejuni infections
C) HLA antigens occur with greater frequency in pts w/ CIDP
D) As in GBS, corticosteroids are also not effective
True: C) HLA antigens occur with greater frequency in pts w/ CIDP
* Asymmetric, involving the UPPER extremities
* NOT associated with infections
* Corticosteroids are EFFECTIVE
87
NCS characteristics of CIDP?
Typical findings: multifocal conduction block, prolonged distal latencies
Absence of denervation changes early
88
Multifocal motor neuropathy presents as?
It is associated with which IgM antibody?
Motor nerve conduction blocks
MC in Men
Painless
(+) Atrophy
anti-GM1
89
What is the characteristic feature of leprous polyneuritis?
Temperature-dependent pattern (cooler areas)
