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
Related Topics
You May Also Like
- Geriatric Small-Cell Lung Cancer
Therapeutic Challenges
- Chronic Pruritus in Renal, Hepatic, and Biliary Tract Diseases
Pooled Expertise for Targeted Evaluation and Treatment
- Advanced Thyroid Cancer
Molecular Mechanisms and New Therapeutic Approaches
- Epidermolysis bullosa
Promoting Wound Healing with Gene Therapies and Birch Bark Extract
- From Risk Identification to Anti-Inflammatory Intervention
Inflammation as a Treatment Goal in Its Own Right
- Psoriasis Research: What's in the Pipeline?
Highly selective oral TYK inhibitors in Phase III
- Cardiometabolism
Retatrutid and the TRIUMPH Program: The Triple Agonist on the Horizon
- Pediatric Retinoblastoma