Use this url to cite publication: https://hdl.handle.net/20.500.12512/22017
Early diagnosis of spinal muscular atrophy is critical to ensure better outcomes: a case report
Type of publication
Konferencijų tezės nerecenzuojamame leidinyje / Conference theses in non-peer-reviewed publication (T2)
Title
Early diagnosis of spinal muscular atrophy is critical to ensure better outcomes: a case report
Milda Dambrauskienė, Jolita Urbonaitė, Milda Endzinienė
Publisher (trusted)
Lietuvos sveikatos mokslų universitetas
Date Issued
| Date |
|---|
2019-05-16 |
Extent
p. 61-61.
Is part of
15th conference of the Baltic Child Neurology Association (BCNA2019) : 16-18 May 2019 in Kaunas, Lithuania : final programme and abstract book / Baltic Child Neurology Association. Lithuanian Child Neurology Association. Kaunas : Lietuvos sveikatos mokslų universitetas, 2019.
Version
Originalus / Original
Description
no. PP17
Poster presentations.
Field of Science
Abstract (en)
Introduction. Spinal muscular atrophy (SMA) type 1 is the most common type of SMA and is also a severe from of the disease. We present a case of an infant with early diagnosis of type 1 SMA and effective treatment with nusinersen. Studies show that infants treated before seven months of age show more progress. Case report. We present a girl, whose parents noticed that at the age of 8 weeks she had minimal movements of the limbs, no head control, and restricted elevation of the right shoulder. She was referred to the local pediatric neurologist and the next day she was admitted to the Centre of Neuromuscular Disorders in Kauno klinikos. [...].
Type of document
type::text::conference output::conference proceedings::conference paper
Other Identifier(s)
(LSMU ALMA)990000986820107106
Coverage Spatial
Lietuva / Lithuania (LT)
Language
Anglų / English (en)