Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

Abstract Background Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the natural history of the disease. The aim of this study is to describe pati...

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Bibliographic Details
Main Authors: Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-Pruszczyk
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spinal muscular atrophy (SMA)
Neuromuscular disease
Registry
TREAT-NMD
SMN2 copy number
Type 3 SMA
Online Access:https://doi.org/10.1186/s13023-021-01771-y

Internet

https://doi.org/10.1186/s13023-021-01771-y

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