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
Describe at least 3 ways that we might distinguish the presentation of a myopathy from the presentation of a peripheral neuropathy– think about timing, symptoms, senses, distribution, bloodwork, etc...
Possible answers-- there may be more!
Familial dysautonomia is an example of
a) A hereditary sensory and autonomic neuropathy
Which of the following findings is the strongest indicator of a neuropathy?
c) A low nerve conduction velocity reading
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)
Which of the following is not a primary feature of Charcot Marie Tooth?
b) progressive loss of vision
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
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
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
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
