Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
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.
Palavras-chave
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