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

Three brothers from the iron range of northern Minnesota developed typical symptoms of achalasia in adult life. The diagnosis of classic achalasia was confirmed in each brother by roentgenologic examination and by esophageal motility studies and each patient was treated successfully by forceful dilation of the lower sphincter or by esophagomyotomy. Although the three brothers were raised in the same home and all worked in the iron mines, it appears unlikely that environmental factors were responsible for the development of this disease. The etiology of achalasia in siblings remains obscure but a genetic origin (autosomal recessive) seems most likely.
 ...
PMID:Achalasia in three siblings: a rare occurrence. 60 92