Characterization of motor functional diversity and autonomy of subject with type III spinal muscular amyotrophy
Main Article Content
Abstract
Introduction: According to the World Health Organization there are approximately 610 million people with some sort of disability in the world. Neuromuscular diseases (NMD) cause deficiencies which lead to physical disability due to loss of strength. Among NMDs, the Spinal Muscular Atrophy (SMA) is a genetic disease that affects the body from motor neurons in the anterior horn of the spinal cord. Case Report: A descriptive study with qualitative and exploratory approach was carried out about one subject with type III AME diagnostic (Kugelberg-Welander Disease). Data were collected from January through March 2012 using a 20-item questionnaire developed by the authors about autonomy and individual independency. Subject reported a typical childhood of an infant presenting motor disability and the importance of professional life and social relations for personal satisfaction. Subject emphasizes the efforts to help other individuals with functional diversity. The importance of assistive technology for subject life is noticed. Conclusion: The study presents an individual whose disability has not prevented to fight for a fulfilling life within own limitations.
Downloads
Article Details
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License (CC BY) that allows others to share and adapt the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.References
World Health Organization. World report on disability. 2011; p. 8-11.
Federação Brasileira de Bancos (FEBRABAN). População com deficiência no Brasil fatos e percepções. 2006; p.10-45.
Pontes JF, Ferreira GMH, Sena-Evangelista KCM, Dourado Junior ME, Fregonezi G. Força muscular respiratória, perfil postural e nutricional em crianças com doenças neuromusculares. Fisioter Mov. 2012;25(2):253-61. http://dx.doi.org/10.1590/S0103-51502012000200002
Orsini M, Freitas MRG, Sá MRC, Mello MP, Botelho JP, Antonioli RS, et al. Uma revisão das principais abordagens fisioterapêuticas nas atrofias musculares espinhais. Rev Neurocienc. 2008;16(1):46-52.
Cunha MCB. Efeitos da oxandrolona (esteroide anabólico androgênico) e dos exercícios aquáticos no tratamento de pacientes com doenças neuromusculares. Tese [Doutorado] Universidade Federal de São Paulo – Escola Paulista de Medicina. São Paulo: 2004; p. 6-7.
Galvão Filho TA; Damasceno LL. Tecnologia assistiva em ambiente computacional: recursos para a autonomia e inclusão socio-digital da pessoa com deficiência. Programa InfoEsp: Premio Reina Sofia 2007 de Rehabilitación y de Integración. In: Boletín del Real Patronato Sobre Discapacidad, Ministerio de Educación, Política Social y Deporte. Madri (Espanha): 2008;(63):14-23.
Pereira R. Diversidade funcional: a diferença e o histórico modelo de homem-padrão. História, Ciências, Saúde – Rio de Janeiro: Manguinhos; 2009; 16(3):715-28.
Carbonero FC, Zago GM, Campos D. Tecnologia Assistiva na Distrofia Muscular de Duchenne: aplicabilidade e benefícios. Rev Neurocienc. 2012;20(1):109-16.
Darabas KC, Comim CM, Tuon L. Análise da funcionalidade e qualidade de vida em pacientes portadores de doenças neuromusculares. Fisioter Brasil. 2009;10(4):241-7.
Strehle EM. Long-term management of children with neuromuscular disorders. J Pediatr (Rio J). 2009;85(5):379-84. http://dx.doi.org/10.2223/JPED.1929
Baioni MTC, Ambiel CR. Spinal muscular atrophy: diagnosis, treatment and future prospects. J Pediatr (Rio J). 2010;86(4):261-70
Abresch RT, Seyden NK, Wineinger MA. Quality of life: Issues for persons with neuromuscular diseases. Phys Med Rehabil Clin N Am. 1998;9(1):233-48
Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM. Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. J Genet Couns. 2012;21(5):713-25. http://dx.doi.org/10.1007/s10897-012-9492-z
Boyer F, Morrone I, Laffont I, Dizien O, Etienne JC, Novella JL. Health related quality of life in people with hereditary neuromuscular diseases: an investigation of test–retest agreement with comparison between two generic questionnaires, the Nottingham health profile and the short form-36 items. Neuromuscular Disord. 2006;16(2):99-106. http://dx.doi.org/10.1016/j.nmd.2005.11.002
Vuillerot C, Hodgkinson I, Bissery A, Schott-Pethelaz AM, Iwaz J, Ecochard R, et al. Self-perception of quality of life by adolescents with neuromuscular diseases. J Adolesc Health. 2010;46(1):70-6. http://dx.doi.org/10.1016/j.jadohealth.2009.05.005