Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe.

ABSTRACT:

Background

The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives and access to the different techniques is not uniform across Europe. The patient advisory board of the European reference network for rare neuromuscular diseases (NMD) conducted a qualitative study to understand the state of play of screening for inherited NMD in Europe and patients' needs.

Results

We collected answers from 30 patient organisations (POs) from 18 European countries. Fifteen acknowledge the existence of pre-implantation genetic diagnosis in their country. Regarding prenatal screening, we had 25 positive answers and 5 negative ones. Twenty-four

SUBMITTER: Lamy F 

PROVIDER: S-EPMC7874448 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature