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A 28 y.o. insurance salesman is referred to your office because of "dropped
feet". He had consulted his primary care physician because he was having
trouble lifting his toes when walking. He had begun to trip on curbs and
climbing stairs. He had stumbled on a carpet at his in-laws house. On family
history you find that his paternal uncles both needed canes to walk and
that his paternal grandfather had been confined to a wheelchair before he
died because of "paralysis". The patient's father had the same "funny" feet
that the patient had, high arches and "hammer" toes. He had always been
considered a poor athlete growing up because of incoordination.
On examination, the only abnormalities are confined to the lower
extremities. His calves have a "champagne bottle" shape suddenly tapering
in mid calf to being very thin. He has the high arches and "hammer" toes.
His deep tendon reflexes in the lower extremities are absent, but they
are 2+ and symmetrical in the upper extremities. He has thick palpable
deep and common peroneal nerves bilaterally which can be easily palpated
as they cross the fiular border. He has a mild loss of all sensory
modalities in a stocking distribution in his lower extremities.
Questions:
- Name eight inherited peripheral neuropathies. Which one do you
think explains this patient's symptoms?
- This peripheral neuropathy comes in different types. What is the
difference between Type I and Type II?
- What is the family of genes affected in this disorder? Speculate on
how they may produce the disease.
- What treatment do you recommend for this patient?
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