Which of the following is not a primary feature of Charcot Marie Tooth?
b) progressive loss of vision
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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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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
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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 neuropathyโ think about timing, symptoms, senses, distribution, bloodwork, etc...
Possible answers-- there may be more!
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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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15
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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15
Familial dysautonomia is an example of
a) A hereditary sensory and autonomic neuropathy
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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
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20
ย 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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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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5
What is the inheritance pattern for Hereditary Neuropathy with Liability to Pressure Palsies?
autosomal dominant
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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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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