Your patient asks you to explain what 'peripheral neuropathy' means, because they've heard the term but don't understand it. What might you say?
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25
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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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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10
Which of the following is not a primary feature of Charcot Marie Tooth?
b) progressive loss of vision
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15
How are subtypes of Charcot-Marie-Tooth currently identified?
b) Molecular diagnostics: Single-gene testing for PMP22 with duplication/deletion analysis is recommended first, usually followed by a multigene panel if normal
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20
 Which of the following might be the earliest indication that a newborn has Familial Dysautonomia?
d) The newborn does not have the expected bumps on their tongue (fungiform papillae)
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Familial dysautonomia is an example of
a) A hereditary sensory and autonomic neuropathy
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15
What is the most common molecular cause of autosomal dominantly inherited Charcot Marie Tooth Hereditary Neuropathy?
duplication of a peripheral myelin protein gene on 17q- PMP22
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What is the inheritance pattern for Familial Dysautonomia?
autosomal recessive
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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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What is the inheritance pattern for Hereditary Neuropathy with Liability to Pressure Palsies?
autosomal dominant
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15
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
