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.
2006
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].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/3247
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