Overview
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
Description
To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.
Eligibility
Inclusion Criteria:
- All individuals with clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion Criteria:
- Individuals with a RASopathy con confirmed by genetic analysis