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Special Pop Exam 1 > 1: Neuromuscular & Rare (Part 3) > Flashcards

1: Neuromuscular & Rare (Part 3) Flashcards

1
Q

What kind of disease is DMD?

A

Inherited, X-linked recessive disease

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2
Q

In DMD, the muscles (including myocardium) are gradully replaced with ____ and _____

A

fat
connective tissue

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3
Q

When and how does DMD present?

A

Presents in childhood (between 3-5 years of age) as proximal muscle weakness and painless muscle atrophy in boys

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4
Q

In DMD there is a loss of functional _____

A

dystrophin

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5
Q

What is dystrophin? It plays major role in what 2 things?

A

Dystrophin is a protein that plays a major role:
in stabilization of the muscle membrane
signaling between cytoskeleton and extracellular matrix

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6
Q

What are the clinical manifestations of DMD?

A

Proximal muscle weakness and gait issues, gradual onset of muscle wasting, contractures (kyphoscoliosis)

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7
Q

What is Gowers sign? What disease is it a/w?

A

using hands to push on legs to stand
DMD

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8
Q

underlined in ppt

Serum _____ levels are consistently elevated in DMD

A

Creatine kinase

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9
Q

What is used to screen newborns and assess muscle degeneration with DMD?

A

SERUM CREATINE KINASE LEVELS

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10
Q

How do serum CK levels change as you age with DMD? Why is this?

A

As they age, the more muscle that atrophies, and the CK levels begin to decrease

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11
Q

DMD pts usually succumb to _____ by middle age.

A

cardiopulmonary complications

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12
Q

What cardiac abnormalities are common with Duchenne’s? How should you treat them?

A

cardiomyopathy
mitral regurg
rhythm disorders
tx w/: ACE inhibitors, diuretics, and beta blockers

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13
Q

red+bold in ppt

Cardiac depressants are safe for use in pts with Duchenne’s T/F

A

FALSE
AVOID CARDIAC DEPRESSANTS

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14
Q

bolded

Duchenne’s pts are sensitive to myocardial depressant effects of ____, ___, and ____.

A

inhalationals
sedatives
narcotics

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15
Q

Can you use Sux for pts with DMD?

A

NO
c/i in these pts

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16
Q

why is sux contraindicated in pts w/ DMD?

A

due to risk of:
hyperkalemia
rhabdomyolysis

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17
Q

Why are DMD pts an aspiration risk?

A

decreased laryngeal reflexes

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18
Q

DMD pts have delayed gastric motility T/F

A

TRUE
and delayed gastric emptying

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19
Q

DMD pts have decraesed sensitivity to non-depolarizers T/F

A

FALSE
INCREASED

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20
Q

Why should you avoid inhalationals if possible with DMD pts?

A

bc its associated w/ MH-like response

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21
Q

Is recurrent pneumonia common with DMD pts? Why?

A

yes d/t ineffective cough and inadequate secretion clearance

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22
Q

A (restrictive/obstructive) ventilatory pattern and postop resp failure is a/w DMD

A

Restrictive

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23
Q

Poor respiratory function, pulm HTN from chronic sleep apnea, kyphoscoliosis are all characteristic of _____

A

DMD

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24
Q

Becker Muscular Dystrophy is more severe disease course than DMD T/F

A

FALSE
MILDER

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25
Q

What is the onset age for Becker muscular dystrophy?

A

around 12 years (some later in life)

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26
Q

What is becker muscular dystrophy?

A

Decrease in normal amounts of dystrophin

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27
Q

What is the mortality of becker muscular dsytrophy?

A

similar to DMD, but usually live until 5th or 6th decade

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28
Q

Emery-Dreifuss Muscular Dystrophy is casused by _____

A

mutations in two proteins

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29
Q

How does Emery-Dreifuss Muscular Dystrophy typically present?

A

Typically presents with contractures of the ankles, elbows, and neck

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30
Q

Emery-Dreifuss Muscular Dystrophy causes progressive weakness of ___ and ____ muscles.

A

humeral and peroneal muscles

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31
Q

When would you see Cardiomyopathy and cardiac conduction abnormalities a/w Emery-Dreifuss Muscular Dystrophy?

A

(present around 30 years of age)

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32
Q

What are the greatest concerns for pts with muscular dystrophies?

A

cardiac involvement and respiratory muscle weakness (Advanced cardiac monitoring)

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33
Q

Other concerns for pts with muscular dystrophies include:

A

Premedication and respiratory depression, impaired swallowing, GI dysfunction

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34
Q

red+bolded

You should avoid _____ and _____ in pts with muscular dystrophies due to their risk for rhabdomylysis and hyperkalemia

A

succs + inhaled agents

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35
Q

Preoperative muscle weakness may require postoperative ______

A

mechanical ventilation

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36
Q

what are the better anesthetia alternatives for pts with muscular dystrophies?

A

local and regional

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37
Q

muscular dystrophies make pts sensitive to _____

A

nondepolarizing muscle relaxants

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38
Q

What is myotonia? What does it include?

A

group of hereditary skeletal muscle diseases (myotonic dystrophy, myotonia congenita, myotonia fluctuans, paramyotonia congenita)

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39
Q

red

What is common to ALL myotonias?

A

inability of skeletal muscles to relax after chemical or physical stimulation

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40
Q

Dysfunction of ion channels in the muscle membrane is characteristic of ___ disorders

A

myotonic

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41
Q

Reduced conductance of _____ ions in the sarcolemma and other channelopathies are characteristic of myotonic disorders

A

chloride

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42
Q

Clinical manifestation characteristic of myotonic disorders:

A

Progressive muscle wasting with weakness combined with multisystem involvement

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43
Q

what kind of disorder is myotonic dystrophy?

A

autosomal dominant
(1 parent has it)

44
Q

When in life does myotonic dystrophy usually occur?

A

usually occurs in 2nd or 3rd decade of life

45
Q

What are the 2 types of myotonic dystrophy?

A

DM-1 (Steinert’s): congenital, childhood onset, adult onset and late onset)
DM-2 (proximal myotonic myopathy and myopathy)

46
Q

myotonic dystrophy is characterized by:

A

hypoplastic, dystrophic and weak skeletal muscles and prone to persistent contraction

47
Q

describe the progression of myotonic dystrophy

A

Slow, progressive deterioration of skeletal, cardiac and smooth muscle, wasting and cardiac conduction defects…death

48
Q

Which type of myotonic dystrophy (1 or 2) has diabetes?

A

type 1

49
Q

Type (1/2) is the most common type of myotonic dystrophy

A

1

49
Q

Major effects of myotonic dystrophy type 1

A
50
Q

How is myotonic dystrophy type 1 subdivided?

A

by age of onset

51
Q

Myotonic dystrophy type 1 is characterized by:

A

Characterized by myotonia induced by voluntary or reflex contractions followed by prolonged relaxation

52
Q

For myotonic dystrophy 1 muscle weakness begins ____ and progresses _____

A

distally
proximally

53
Q

Myotonic dystrophy 1 is an intrinsic disorder of skeletal muscle linked to:

A

myotonin-protein kinase gene,
defect in Na+ and CL- channel function produces electrical instability of the muscle membrane

54
Q

How does myotonic dystrophy 1 manifest?

A

Manifests as weakness of facial muscles, wasting of sternocleidomastoid muscles, ptosis, dysarthria, dysphagia and inability to relax hand gri

55
Q

What is the triad a/w myotonic dystrophy 1?

A

Triad of mental retardation (testicular atrophy in men), frontal baldness and cataracts

56
Q

What are the pulmonary issues a/w myotonic dystrophy 1?

A

Pulmonary issues from hypotonia, decreased cough effectiveness and chronic aspiration, diminished ventilatory response to hypoxia and hypercapnia, OSA, hypersomnolence

57
Q

treatment for myotonic dystrophy 1 is usually ____ and includes ____

A

supportive
Na+ channel blockers

58
Q

bold+red

What cardiac considerations are a/w myotonic dystrophy 1?

A

Conduction defects (heart blocks and tachyarrhythmias)
Sudden cardiac death (third-degree AV block or Ventricular dysrhythmias),

59
Q

myotonic dystrophy 1 is a/w (hypothyroidism/hyperthyroidism)

A

hypothyroidism

60
Q

insulin resistance is characteristic of myotonic dystrophy (1/2)

A

1

61
Q

What is the most common smooth muscle atrophy a/w myotonic dystrophy 1?

A

most common is cranial and distal limb muscles (hatchet face)

62
Q

Is DM-1 or DM-2 milder?

A

DM-2

63
Q

Pts w/ DM-2 are more likely to have diabetes T/F

A

FALSE
LESS likely

64
Q

What is the life expectancy of DM-2?

A

NORMAL

65
Q

Sudden cardiac death is more common in (DM-1/DM-2)

A

DM-1
DM-2 have AV conduction delays but sudden death is less likely

66
Q

DM-2 pts are more likely to have:

A

More likely to have myalgia, muscle strength variation, hypertrophy of calf muscle

67
Q

Disability from chronic myopathy (DM-2) occurs (early/later)

A

later

68
Q

Can you use inhalational agents with pts w/ DM-2?

A

YES, risk of MH is no greater than gen pop

69
Q

pregnancy exacerbates symptoms a/w DM-2 T/F

A

TRUE
(uterine atony, postpartum hemorrhage and retained placenta)

70
Q

bold

What cardiac device should be available when doing anesthesia on pt with DM-2?

A

PACER
assume pt has cardiac involvement

71
Q

Whats the preferred anesthetic technique for DM-2 pts?

A

regional and peripheral blocks

72
Q

MH definition

A

: Malignant Hyperthermia (MH) is a rare, life-threatening hypermetabolic reaction to certain anesthetic agents.

73
Q

MH triggering agents

A

Volatile anesthetics (e.g., sevoflurane, desflurane) and depolarizing muscle relaxants (e.g., succinylcholine).

74
Q

What is the genetic basis of MH

A

Autosomal dominant disorder, often linked to mutations in the RYR1 gene.
Ryanodine receptor (RYR1) gene mutation is etiology in most cases
RYR (type of calcium channel) is located on the Sarcoplasmic Reticulum and activated during exposure to triggering agent
Resultant massive release of intracellular calcium within skeletal musclE

75
Q

What is the mechanism of MH?

A

Abnormal (Massive) calcium release from the sarcoplasmic reticulum in skeletal muscle, leading to sustained muscle contraction and hypermetabolism

76
Q

What are the early signs of MH?

A

Hypercarbia: Unexplained rapid increase in end-tidal CO2.
Tachycardia: Elevated heart rate.
Muscle Rigidity: Especially masseter muscle rigidity.

77
Q

What are the LATE signs of MH?

A

Hyperthermia: Rapid rise in body temperature.
Acidosis: Metabolic and respiratory acidosis.
Rhabdomyolysis: Muscle breakdown, leading to elevated CK levels and myoglobinuria.

78
Q

Clinical manifestations of MH

A

immediately after induction or several hours into surgery, or within an hour of GA
Acidosis, hyperkalemia, cardiac irritability, labile BP, arrhythmias and cardiac arrest
Lab findings:
respiratory/metabolic acidosis
K > 6, Creatine Kinase increase
serum and urine myoglobin increases

79
Q

What should be included in the preop MH prep?

A

What types of questions can you ask the patient?
Standard monitoring (core body temp measurement)
MH cart available (What is in the cart? Where is the cart?
Regional or local better choices
Avoid MH triggering agents, TIVA
Activated charcoal filters on expiratory and inspiratory limb, Vapor free anesthesia machine
Flushing of anesthesia machines

80
Q

Patho of NMS

A
81
Q

Classic Tetrad of Clinical Signs for NMS:

A

Muscle rigidity (first sign)
Fever
Altered mental status (drowsiness, agitation, confusion, severe delirium and coma
Autonomic dysfunction (labile BP, tachypnea, tachycardia, diaphoresis, flushing skin, incontinence)

82
Q

What causes NMS?

A

Adverse reaction to medications with dopamine receptor-antagonist properties
MOA: Dopamine receptor blockade in the central nervous system (hypothalamus) leading to dysregulation of temperature and muscle control
Rapid withdrawal of dopaminergic medications

83
Q

How do you tx NMS?

A

Stop offending agent
Supportive measures, benzo or dantrolene

84
Q

NMS: causative agents, key features, treatment

A
85
Q

NMS vs. MH

A
86
Q

Enzymatic deficiencies in the heme synthesis pathway

A

PORPHYRIA

87
Q

porphyria is an accummulation of:

A

Accumulation of neurotoxic porphyrin precursors
(porphobilinogen (PBG) and aminolevulinic acid (ALA))

88
Q

An acute porphyria should be suspected if a patient presents with

A

neurovisceral signs and symptoms, and an initial evaluation excludes more common causes.

89
Q

For porphyria, The most important first-line screening test is measurement of _____

A

urinary porphobilinogen (PBG).

90
Q

____ is expected to be substantially increased in all patients during acute porphyria attacks but not in other medical conditions.

A

PBG

91
Q

PBG test is both ___ and ____ for diagnosis of acute porphyria under most circumstances

A

sensitive and specific
An exception is ADP, in which ALA and porphyrins, but not PBG, are elevated.

92
Q

Acute Intermittent Porphyria (AIP) normally occurs in (older/young) and usually (women/men)

A

young; women

93
Q

Acute Intermittent Porphyria (AIP) clinical features:

A

Fever, tachycardia, nausea, emesis, severe abdominal pain, weakness, seizures, confusion and hallucinations
Respiratory failure
Hyponatremia secondary to inappropriate secretion of ADH

94
Q

AIP attacks can last for ____

A

2 weeks

95
Q

wHat can trigger AIP?

A

Triggered by hormone changes during menstrual cycle, fasting, infection and exposure to triggering agents (barbiturates, etomidate)

96
Q

AIP may be considered in patients with unexpected ___ or ___

A

delayed emergence from anesthesia or postoperative muscle weakness

97
Q

____ is an enzyme synthesized in the liver

A

Plasma cholinesterase (pseudocholinesterase, butyrylcholinesterase)

98
Q

Plasma cholinesterase (pseudocholinesterase, butyrylcholinesterase) hydrolyzes:

A

Anectine, mivacurium, procaine, chloroprocaine, tetracaine, and cocaine

99
Q

What anesthetic consideration would there be for pt with cholinesterase disorders?

A

Prolonged apnea after succinylcholine

100
Q

Dibucaine # chart

A
101
Q

dibucaine # is relevant for ___ disorders

A

cholinesterase

102
Q

Differential Dx chart for: anticholinergic toxidrome, serotonin syndrome, NMS, and MH

A
103
Q

Ryanodine is ___ mg per vial and mixed with ___ ml of sterile water

A

250;5

104
Q

Dantrolene is harder to mix and much higher volumes than ryanodine T/F

A

TRUE

105
Q

What are the anesthesia considerations for DM-2?

A

Careful with pre-postop sedation (respiratory depression)
Inability to secure airway (Jaw muscle spasm)
Avoid Sux, and Neostigmine (?) due to its potential to trigger a myotonic muscle contraction (myotonic response)
Severe enough to make ventilation and intubation difficult
Increased sensitivity to NDMR(residual block), opioids
Peripheral nerve stimulation may produce myotonia that could be misinterpreted as sustained tetanus
Avoid hypothermia and shivering
Regional
Etomidate has potential for myoclonus

Special Pop Exam 1 (16 decks)

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