Wolfram syndrome type 1: a case series.

doi:10.1186/s13023-023-02938-5

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Article

Wolfram syndrome type 1: a case series.

Orphanet journal of rare diseases - 16 Nov 2023

Du Danyang, Tuhuti Aihemaitijiang, Ma Yanrong, Abuduniyimu Munila, Li Suli, Ma Guoying, Zynat Jazyra, Guo Yanying

Abstract excerpt

BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of...

Topics

Humans
Wolfram Syndrome
Neurodegenerative Diseases
Quality of Life
Mutation
Optic Atrophy
Diabetes Mellitus, Type 2

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Identifiers

PMID: 37974252
DOI: 10.1186/s13023-023-02938-5
PMCID: PMC10652474

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