Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

ABSTRACT: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.

Objective

To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.

Methods

We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.

Results

Prenatal features included hypokinesia or akinesia and growth restriction. Six pregnancies were terminated. Nine infants were born at or near term with severe-to-profound weakness and required resuscitation. Seven died following withdrawal of life support. Two surviving children require ongoing respiratory support. Most cohort members had at least 1 disease-cau

SUBMITTER: Coppens S 

PROVIDER: S-EPMC11889535 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature