Resources

What to expect from a lumbar puncture – video

20/06/2018
Description:

The department of Paediatric Neurology and Muscle Diseases at Freiburg University Medical Centre has produced this video to explain lumbar punctures to children, young people and their parents. It is hoped that it will provide them with peace of mind. The video may be used as a supplement to the explanations and preparations by the treating physician.

A lumbar puncture, also called spinal tap, is a medical test. It may be applied to children and young people in order to diagnose diseases of the nervous system or to give a medication (such as Spinraza™).

You can listen to the video in:

 

New treatments for spinal muscular atrophy open-up new challenges for European & national institutions

02/05/2018
Description:

Authors:

Marie-Christine Ouillade & Alexandre Méjat.

 

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A new tool for tracking the progression of spinal muscular atrophy (SMA): quantitative magnetic resonance imaging (qMRI).

24/08/2017
Description:

In a Roche collaboration study with the University of Basel Children’s Hospital in Switzerland, researchers examined ways of tracking change in people with Type 3 SMA over a 1-year period using different biomarkers.  They also looked at whether these biomarkers correlated with well established measures of mobility and movement (MFM [motor function measure] and 6MWT [6minute walk test]).

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Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients

03/06/2017
Description:

Authors: F. Rouault, V. Christie-Brown, R. Broekgaarden, N. Gusset, D. Henderson, P. Marczuk, I. Schwersenz, G. Bellis, C. Cottet .

Journal: Neuromuscular Disorders
DOI: 10.1016/j.nmd.2017.01.018

Standards of Care in spinal muscular atrophy

03/06/2017
Description:

Audience: Patient Advocacy Organizations, Europe+

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