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Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
Madakshira, Manoj Gopal; Singla, Sonal; Gupta, Kirti; Zahan, Sayeeda; Paria, Pradip; Sahu, Jitendra Kumar.
Afiliação
  • Madakshira, Manoj Gopal; Post Graduate Institute of Medical Education and Research. Department of Histopathology. Chandigarh. IN
  • Singla, Sonal; Post Graduate Institute of Medical Education and Research. Department of Pathology. Chandigarh. IN
  • Gupta, Kirti; Post Graduate Institute of Medical Education and Research. Department of Histopathology. Chandigarh. IN
  • Zahan, Sayeeda; Post Graduate Institute of Medical Education and Research. Department of Paediatrics. Chandigarh. IN
  • Paria, Pradip; Post Graduate Institute of Medical Education and Research. Department of Paediatric Neurology. Chandigarh. IN
  • Sahu, Jitendra Kumar; Post Graduate Institute of Medical Education and Research. Department of Paediatric Neurology. Chandigarh. IN
Autops. Case Rep ; 10(2): e2020157, Apr.-June 2020. graf
Article em En | LILACS | ID: biblio-1131809
Biblioteca responsável: BR26.7
ABSTRACT
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
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Texto completo: 1 Temas: Informacoes_doencas_cronicas_degenerativas Base de dados: LILACS Assunto principal: Atrofias Musculares Espinais da Infância Idioma: En Revista: Autops. Case Rep Assunto da revista: Anatomia / Patologia Cl¡nica / Patologia Legal Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Temas: Informacoes_doencas_cronicas_degenerativas Base de dados: LILACS Assunto principal: Atrofias Musculares Espinais da Infância Idioma: En Revista: Autops. Case Rep Assunto da revista: Anatomia / Patologia Cl¡nica / Patologia Legal Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia