• NMDs: Neuropathies
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  • 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
  • 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!
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