Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.

ABSTRACT: BACKGROUND:Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth. A greater number of individuals with BTHS are now surviving into adulthood due to advancements in diagnosis and disease management. Given these improvements in life expectancy, understanding the disease experience over time has become increasingly important to individuals with the condition, treatment developers, and regulatory agencies. A study was conducted to explore the experience of BTHS from the perspective of adult males at least 35 years of age with the condition via in-depth qualitative interviews. RE

SUBMITTER: Mazar I 

PROVIDER: S-EPMC6836365 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature