Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

Arquivos de neuro-psiquiatria
Karin AlvarezClaudia Castiglioni

Abstract

Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistan...Continue Reading

References

Sep 1, 2007·Journal of Child Neurology·Ching H WangUNKNOWN Participants of the International Conference on SMA Standard of Care
Jun 24, 2011·Muscle & Nerve·Kristin J KrosschellUNKNOWN Project Cure SMA
Nov 4, 2011·Orphanet Journal of Rare Diseases·Adele D'AmicoEnrico Bertini
Apr 21, 2012·Lancet Neurology·Eugenio MercuriSusan T Iannaccone
Feb 6, 2013·Archives of Physical Medicine and Rehabilitation·Carole VuillerotUNKNOWN MFM Spinal Muscular Atrophy Study Group
Feb 16, 2013·Genetics and Molecular Biology·Fernanda Marques de Souza GodinhoMaria Luiza Saraiva-Pereira
Feb 5, 2014·Neuromuscular Disorders : NMD·E MazzoneE Mercuri
Jul 8, 2014·Revista de psiquiatrí́a y salud mental·Alvaro Medel-HerreroJose Maria Amate
Aug 8, 2015·Molecular Genetics & Genomic Medicine·Silvia Castillo Taucher
Aug 12, 2015·Pediatric Neurology·Chia-Wei LinWei-Shi Yeh
Jan 7, 2016·The New England Journal of Medicine·Thomas J Bossert, Thomas Leisewitz
Aug 12, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Sofía MedranoEduardo Tizzano
Nov 20, 2016·Journal of Neuromuscular Diseases·Michela CatterucciaSusana Quijano-Roy
Dec 28, 2016·Annals of Neurology·Michelle A FarrarMatthew C Kiernan
Jul 6, 2017·Orphanet Journal of Rare Diseases·Ingrid E C VerhaartHanns Lochmüller
Jul 19, 2017·Molecular Genetics & Genomic Medicine·Marcelo Miranda, María Leonor Bustamante
Nov 2, 2017·The New England Journal of Medicine·Jerry R MendellBrian K Kaspar
Nov 2, 2017·The New England Journal of Medicine·Richard S FinkelUNKNOWN ENDEAR Study Group
Feb 10, 2018·Nature Reviews. Neurology·Ewout J N GroenThomas H Gillingwater
Feb 15, 2018·The New England Journal of Medicine·Eugenio MercuriUNKNOWN CHERISH Study Group

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.

Related Papers

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Li-ping LuBin Hu
Arquivos de neuro-psiquiatria
Vanderson RosoAntônio Carlos Fernandes
Neurosciences : the Official Journal of the Pan Arab Union of Neurological Sciences
Abdulaziz Al-Saman, Osama Mudhafar
© 2021 Meta ULC. All rights reserved