Amyotrophie spinale infantile (R)évolution thérapeutique

Daron, Aurore; DELSTANCHE, Stéphanie; Dangouloff, Tamara; Servais, Laurent

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Amyotrophie spinale infantile (R)évolution thérapeutique

Daron, Aurore; DELSTANCHE, Stéphanie; Dangouloff, Tamara et al.

2019 • In Revue Médicale de Liège, 74 (2), p. 82-85

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https://hdl.handle.net/2268/244951

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30793560

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Keywords :

Newborn screening; Spinal muscular atrophy; Treatments

Abstract :

[en] Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore, the management of the patients and constituting new challenges. © 2019 Revue Medicale de Liege. All Rights Reserved.

Disciplines :

Neurology
Pediatrics

Author, co-author :

Daron, Aurore ; Université de Liège - ULiège > Centre de Références des Maladies Neuromusculaires > Service de Pédiatrie

DELSTANCHE, Stéphanie ; Centre Hospitalier Universitaire de Liège - CHU > Centre de références des Maladies Neuromusculaires > Service de neurologie

Dangouloff, Tamara ; Université de Liège - ULiège > Centre de références des Maladies Neuromusculaires > Service de pédiatrie

Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU + Hôpital Armand Trousseau, Paris > Département de Pédiatrie + Institut I-Motion > Service de pédiatrie

Language :

French

Title :

Amyotrophie spinale infantile (R)évolution thérapeutique

Alternative titles :

[en] Infantile spinal muscular atrophy: Therapeutic (R)evolution

Publication date :

February 2019

Journal title :

Revue Médicale de Liège

ISSN :

0370-629X

eISSN :

2566-1566

Publisher :

Revue Medicale de Liege

Volume :

Issue :

Pages :

82-85

Available on ORBi :

since 18 February 2020

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