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Spinal Muscular Atrophy: A Rare but Treatable Disease of the Nervous System

Sleigh, James N; Christie-Brown, Vanessa; Ryburn, Liz; Yáñez-Muñoz, Rafael J; (2023) Spinal Muscular Atrophy: A Rare but Treatable Disease of the Nervous System. Frontiers for Young Minds , 11 , Article 1023423. 10.3389/frym.2023.1023423. Green open access

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Abstract

When something is rare it means that it happens very infrequently. Did you know that most diseases are rare? There are more than 6,000 known rare diseases, each affecting fewer than 1 in every 2,000 people. But if we put all the rare diseases together, they affect about 1 in 17 of us! Given that they are individually uncommon, rare diseases are often poorly understood. However, rare diseases have a large impact on families and society, thus they require increased attention. In this article, we will explore a rare disease of the nervous system called spinal muscular atrophy (SMA). We will tell you about the symptoms of SMA and explain how it is inherited. SMA has led the way in the discovery of treatments for rare diseases. Finding treatments for rare diseases requires intensive research and commitment from many people, but the success of SMA treatments highlights the importance of studying other rare conditions.

Type: Article
Title: Spinal Muscular Atrophy: A Rare but Treatable Disease of the Nervous System
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/frym.2023.1023423
Publisher version: https://doi.org/10.3389/frym.2023.1023423
Language: English
Additional information: Copyright © 2023 Sleigh, Christie-Brown, Ryburn and Yáñez-Muñoz. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY), https://creativecommons.org/licenses/by-nc/4.0/. The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10175923
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