Wolfram syndrome

Wolfram syndrome
Other namesDiabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Photographic image of the eye showing optic atrophy without retinopathy; from Manaviat et al., 2009[1]
SpecialtyMedical genetics, neurology, endocrinology Edit this on Wikidata

Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as childhood to adult years (2-65 years old). There is a 25% recurrence risk in children.[2][3][4][5][6]

It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. In 1995, diagnostic criteria were created based on the profiles of 45 patients.[2] The disease affects the central nervous system (especially the brainstem). There are two subtypes – Wolfram Syndrome Type 1 (WFS1) and Wolfram Syndrome Type 2 (WFS2), that are distinguished by their causative gene.

Less than 5,000 people in the US have this disease, with WFS1 being more common than WFS2.[7]

  1. ^ Manaviat MR, Rashidi M, Mohammadi SM (December 2009). "Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports". Cases Journal. 2: 9355. doi:10.1186/1757-1626-2-9355. PMC 2804005. PMID 20062605.
  2. ^ a b Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
  3. ^ Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
  4. ^ Cardona M, Ardila A, Gómez JD, Román-González A (2023-07-31). "Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump". AACE Clinical Case Reports. 9 (4): 125–127. doi:10.1016/j.aace.2023.05.002. PMC 10382610. PMID 37520764.
  5. ^ "Wolfram syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.
  6. ^ Delvecchio M, Iacoviello M, Pantaleo A, Resta N (2021-04-30). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. ISSN 1661-7827. PMC 8124476. PMID 33946243.
  7. ^ "Wolfram syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.