Overview
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.
Eligibility
Inclusion Criteria:
Patients will be made aware of the study by HNF and others (referenced above) and invited
to participate. Once patients have reviewed and signed electronically the informed consent
document, it is attached to their file.
All affected individuals with CMT/IN are eligible to participate in GRIN with proper
informed consent.
Children, adolescents and adults with either a confirmed diagnosis or suspected to have
CMT/IN are eligible with parent and/or guardian consent.
Individuals that have been clinically diagnosed through family history and/or standard
clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have
CMT/IN (note: many mutations have not been identified yet) are eligible.
Exclusion Criteria:
People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies