36899
Conditions
Interventions
Group 1: In the initial contact, patients with myoclonus dystonia syndrome provide extensive anamnestic and clinical information about their current status and the course since the onset of the diseas
Sponsors
Uniklinik Köln, Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie und SPZ
Eligibility
Sex/Gender
All
Age
6 Months to 25 Years
Inclusion criteria
Inclusion criteria: • Myoclonus-dystonia syndrome • Proven pathogenic or suspected pathogenic mutation in SGCE or • Clinical diagnosis of myoclonus-dystonia syndrome without genetic evidence • Written consent before the start of data collection, depending on age and psycho-intellectual development signed by patients, parents, or legal guardians • Patient age between 6 months and 25 years.
Exclusion criteria
Exclusion criteria: • Missing consent form • Secondary myoclonus or secondary dystonia as a result of structural brain damage or a progressive neurodegenerative disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoint is the development of a national registry database with systematic recording and follow-up observation of all patients who have manifested MDS in childhood and adolescence. Visits take place annually, and the data are collected through on-site visits or by sending the corresponding files. Standardized clinical examinations and questionnaires are used. | — |
Secondary
| Measure | Time frame |
|---|---|
| As a secondary endpoint, any information collected in this way and the knowledge gained from it about the rare disease MDS are considered. | — |
Countries
Germany
Contacts
Public ContactAnna Schönherr
Uniklinik Köln, Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie und SPZ
Outcome results
None listed