Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.

ABSTRACT:

Purpose

TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD.

Methods

Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review.

Results

Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = feta

SUBMITTER: Miyake CY 

PROVIDER: S-EPMC10306319 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature