Pathophysiology
and Treatment of
Human Diseases
Introduction
Sir Thomas Willis is credited with the fi rst description
of a patient with achalasia in 1674. Einhornin1888
hypothesized that the disease was due to the absence of
opening of the cardia. Overthe pastthree centuries achalasia
has emerged as an important model by which to
understand the pathophysiology and therapy of motility
disorders originating from defects of the enteric nervous
system. It is the most extensively studied and readily
treatable gastrointestinal motor disorder. This chapter
reviews current concepts in achalasia, with emphasis
on the pathophysiology and etiology of the disease.
Specifi c secondary etiologies of achalasia are reviewed
that provide insight into mechanisms responsible for
the neurodegeneration that characterizes the disorder.
Diffuse esophageal spasm, nutcracker esophagus and
functional chest pain of presumed esophageal origin are
also discussed, although there is limited evidence pointing
to an enteric neural defect in these disorders
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