Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe a 31-year-old woman of British Isle ancestry who developed a syndrome resembling familial dysautonomia in her early teenage years. Predominant manifestations included achalasia, severe orthostatic hypotension, and abnormal sweating. The study included resting and stimulated fractional catecholamines, which were almost nonexistent in both situations, and urinary catecholamines, demonstrating an increase in dopamine degradation products. Immunohistochemistry of saphenous vein was negative for dopamine beta-hydroxylase (DBH), serotonin (5-HT) and several vasoactive neuropeptides. The only neuropeptide detected at levels thought to be physiologically relevant was calcitonin gene-related peptide (CGRP), a vasodilator. This was in contrast to control veins, all of which had DBH and neuropeptide Y immunoreactive fibers but few CGRP fibers. Also in contrast to controls, electron microscopy of the saphenous vein indicated a close to total absence of terminals with norepinephrine containing vesicles. Sural nerve biopsy showed, on electron microscopy, a considerable reduction in the number of myelinated fibers, while unmyelinated fibers appeared to be in the normal range. The authors suggest, from the above findings, that the autonomic fibers were undergoing some form of distal axonal degeneration. Their findings differ from most biopsies performed in dysautonomic children, and they believe their patient has a different neurologic entity.
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PMID:Case report: autonomic postganglionic denervation--sural nerve and saphenous vein biopsy. 158 Mar 23