Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism.
Pellegrini, M., Zicari, E., Dotti, M., Federico, A. (2006). Dysautonomic achalasia in two siblings with Sandhoff disease. JOURNAL OF THE NEUROLOGICAL SCIENCES, 241(1-2), 107-109 [10.1016/j.jns.2005.11.001].
Dysautonomic achalasia in two siblings with Sandhoff disease
DOTTI M.;FEDERICO A.
2006-01-01
Abstract
Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism.
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https://hdl.handle.net/11365/3247
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