Rett syndrome: criteria for diagnosis, course, prognosis (description of a clinical case)
Rett syndrome is a progressive neurodegenerative disease caused by a mutation in the MESP2 gene. To make a diagnosis, the main and additional criteria of the disease are used, as well as molecular genetic methods confirming the mutation. This article presents a clinical case of Rett syndrome, describes the main approaches to therapy and features of patient curation.
Authors
- M. V. Shumilina (ORCID: https://orcid.org/0000-0001-7439-2690)
- Oksana V. Poteshkina (ORCID: https://orcid.org/0000-0001-9569-0793)
- Л. М. Щугарева (ORCID: https://orcid.org/0000-0002-2447-3174)
Institutions
- North-Western State Medical University named after I.I. Mechnikov (RU)
- Medical Technologies (Czechia) (CZ)
Publication Details
- Journal
- Российский нейрохирургический журнал им профессора А Л Поленова
- Published
- 2024-12-23
- DOI
- https://doi.org/10.56618/2071-2693_2024_16_4_203
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.10