The term “DIDMOAD” syndrome – an acronym for the characteristic symptoms – serves as an alternative name for this autosomal recessive neurodegenerative disease, which was first described in 1938: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness/Deafness. In the majority of patients, mutations in the WFS1 gene can be detected.
Autoren
- Mirjam Peter, M.Sc.
Publikation
- HAUSARZT PRAXIS
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