In patients with non-V30M mutations the age of onset is typically in the 50s.12
Patients may present with:
Peripheral nerve involvement
Sensorimotor impairment in either the upper or lower extremities. Upper extremity involvement manifests as weakness and paresthesias of one or both hands. Lower extremity involvement follows a pattern similar to that observed in V30M cases9
Autonomic dysfunction often manifests as one or more of the following: alternating constipation and diarrhea, orthostatic hypotension, and erectile dysfunction2,11
Other organ involvement
Sensorimotor and autonomic neuropathy is often accompanied by visceral organ involvement. Organs affected may include the kidneys and the heart9
*Valine replaced by methionine at position 30 of the transthyretin protein.
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