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Items: 3

1.

Polyneuropathy

A generalized disorder of peripheral nerves. [from HPO]

MedGen UID:
504780
Concept ID:
CN001165
Finding
2.

Amyloidogenic transthyretin amyloidosis

Familial transthyretin (TTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. [from GeneReviews]

MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
3.

Polyneuropathy

A generalized disorder of peripheral nerves. [from HPO]

MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
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