Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.

ABSTRACT:

Background

Protein phosphatase 2 regulatory subunit B' Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gross motor delay, intellectual disability (ID), epilepsy, speech delays, and abnormal gait among other impairments. As this disorder was recognized within the last decade, there are only 103 people published diagnoses to date. A thorough understanding of the motor manifestations of this disorder has not yet been established. Knowledge of the natural history of PPP2R5D related neurodevelopmental disorder will lead to improved standard of care treatments as well as serve as a baseline foundation for future clinical trials. Appropriate outcome measures are necessary f

SUBMITTER: Kanner CH 

PROVIDER: S-EPMC10848481 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature