Literature DB >> 34232342

[Scoliosis in spinal muscular atrophy].

T-L Vu-Han1, M J Reisener2, M Putzier2, M Pumberger2.   

Abstract

5q-spinal muscular atrophy (5q-SMA) is an autosomal recessive neuromuscular disorder caused by a biallelic mutation of the survival of motor neuron 1 SMN1 gene. The resulting lack of SMN protein causes a progressive degeneration of anterior motor neurons and muscular atrophy, which leads to a progressive scoliosis in two-thirds of affected cases. Depending on the disease subtype and severity, affected patients can subsequently develop respiratory insufficiency, leading to a fatal outcome. Ground-breaking research on this devastating disorder has led to the approval of novel therapies that may alter the clinical course of this disease in the future. Here we present a summary of these new therapies, current operative strategies for 5q-SMA associated scoliosis and provide an outlook for possible implications for the future.

Entities:  

Keywords:  Early-onset scoliosis; Growing rods; Neuromuscular disorders; Nusinersen, risdiplam, gene therapy onasemnogene; Scoliosis surgery

Year:  2021        PMID: 34232342     DOI: 10.1007/s00132-021-04131-7

Source DB:  PubMed          Journal:  Orthopade        ISSN: 0085-4530            Impact factor:   1.087


  5 in total

1.  [Acute respiratory insufficiency as the initial clinical manifestation of spinal muscular atrophy].

Authors:  C Poets; R Heyer; H von der Hardt; G F Walter
Journal:  Monatsschr Kinderheilkd       Date:  1990-03       Impact factor: 0.323

Review 2.  Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease.

Authors:  Crystal Jing Jing Yeo; Basil T Darras
Journal:  Pediatr Neurol       Date:  2020-01-22       Impact factor: 3.372

3.  Hip dislocation in spinal muscular atrophy.

Authors:  C Granata; E Magni; L Merlini; S Cervellati
Journal:  Chir Organi Mov       Date:  1990 Apr-Jun

4.  Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec.

Authors:  Susan E Matesanz; Candace Curry; Brianna Gross; Adam I Rubin; Rebecca Linn; Sabrina W Yum; Elizabeth A Kichula
Journal:  J Child Neurol       Date:  2020-06-09       Impact factor: 1.987

Review 5.  Spinal muscular atrophy care in the COVID-19 pandemic era.

Authors:  Aravindhan Veerapandiyan; Anne M Connolly; Richard S Finkel; Kapil Arya; Katherine D Mathews; Edward C Smith; Diana Castro; Russell J Butterfield; Julie A Parsons; Laurent Servais; Nancy Kuntz; Vamshi K Rao; John F Brandsema; Eugenio Mercuri; Emma Ciafaloni
Journal:  Muscle Nerve       Date:  2020-05-03       Impact factor: 3.852

  5 in total

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