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Синдром глухоти - дивертикульозу тонкого кишечника - нейропатії

ORPHA:3217· ICD-10 G60.8· Deafness-small bowel diverticulosis-neuropathy syndrome

Визначення(English summary)

A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.

Поширеність
<1 / 1 000 000
Вік початку
Childhood