Your patient asks you to explain what 'palsy' means, because they've heard the term but don't understand it. What might you say?
A broad term for a paralysis, or partial or full inability to move certain muscles, that often comes alongside weakness and uncontrolled movements like shaking
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5
What is the inheritance pattern for Familial Dysautonomia?
autosomal recessive
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5
What is the inheritance pattern for Hereditary Neuropathy with Liability to Pressure Palsies?
autosomal dominant
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15
Familial dysautonomia is an example of
a) A hereditary sensory and autonomic neuropathy
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25
A podiatrist refers a patient to you because they and are affected by slowly worsening foot drop, high-arched feet, hammer toes, and sensory loss. They are also a member of the Deaf community, which increases your suspicion of:
a) XL inheritance of a GJB1 duplication-- this pathology leads to an X-linked form of CMT that is also associated with deafness and CNS symptoms
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10
____ can be caused by a deletion of PMP22, whereas ____ is caused by a duplication
CMT, HNPP
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In which of the following scenarios would information about why they were referred decrease your suspicion of a peripheral neuropathy that we have discussed in class (CMT, HNPP, FD)
c) A 3 month old was born with severe hypotonia, and scoliosis... these are indicative of a congenital myopathy
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20
Describe at least 3 ways that we might distinguish the presentation of a myopathy from the presentation of a peripheral neuropathyâ think about timing, symptoms, senses, distribution, bloodwork, etc...
Possible answers-- there may be more!
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10
You are preparing for a preconception genetic counseling session. The couple being of ____ ancestry might lead you to talk about Riley-Day syndrome as a condition that they may want to know their carrier status for
Ashkenazi Jewish ancestry- 1/36 carrier rate
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10
Provide an example of how damage to each of the following nerves could present for an individual with a peripheral neuropathy: sensory nerve damage symptom, motor nerve damage symptom, autonomic nerve damage symptom
Possible answers
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15
What is a hammer toe? Describe what it might look like, and a condition that you would put on the differential if neural damage signs were also present.
A hammer toe is a condition that causes the 2nd (sometimes 3rd, and/or 4th) toe to be bent/curl downward at the middle joint. This is a feature of CMT
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20
What, if any, of the following are associated with a decreased life expectancy? Charcot Marie Tooth, Hereditary Neuropathy with Liability to Pressure Palsies, Familial Dysautonomia
Familial Dysautonomia progression is associated with decreased life expectancy
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10
Which of the following findings is the strongest indicator of a neuropathy?