Informace o publikaci

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Autoři	BLADEN Catherine L JACKSON Jacqueline M. WEGEL Claire PISANO Paolo SCHREIBER Olivia JEDRZEJOWSKA Maria KOSTERA-PRUSZCZYK Anna GREDAL Ole TOPALOGLU Haluk MATYUSHENKO Vitaliy KOSAC Ana GARAMI Marta MONGES Soledad CHERTKOFF Lilien GUERGUELTCHEVA Velina CRAIU Dana CAMPBELL Craig STRENKOVÁ Jana JIMENEZ Alatorre ENRIQUEZ GonzalesGracia Vivianna ROXBURGH Richard YOUNGS Leanne ANGELKOVA Natalija CUISSET Jean-Marie JEANNET Pierre-Yvet NASCIMENTO Andres SALGADO David SEJERSEN Thomas RAFFERTY Karen BUSHBY Kate BEROUD Christophe THOMPSON Rachel GARLAND Connie AMBROSINI Anna WALTER Maggie C. LUSAKOWSKA Anna POL Ludo van der WADMAN Renske I. KARADUMAN Ayse YILMAZ Oznur RASIC Vedrana Milic KARCAGI Veronika HERCZEGFALVI Agnes MORESCO Angelica CHAMOVA Theodora BUTOIANU Niculina KORNGUT Lawrence HABERLOVA Jana ALEJANDRO Moises ORTIZ Genaro Gabriel RODRIGUES Miriam DAWKINS Hugh LAHDETIE Jaana SAUGIER-VEBER Pascal BLOETZER Clemens KLEIN Andrea TIZZANO Eduardo MERCURI Eugenio KIRSCHNER Jan STRAUB Volker VERSCHUUREN Jan LOCHMÜLLER Hanns
Rok publikování	2014
Druh	Článek v odborném periodiku
Časopis / Zdroj	European Journal of Neurology
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
Doi	http://dx.doi.org/10.1007/s00415-013-7154-1
Obor	Neurologie, neurochirurgie, neurovědy
Klíčová slova	Spinal muscular atrophy; Rare disease; Disease registries; TREAT-NMD
Popis	Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.