Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
Autops. Case Rep
;
10(2): e2020157, Apr.-June 2020. graf
Artigo
em Inglês
| LILACS
| ID: biblio-1131809
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Atrofias Musculares Espinais da Infância
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Autops. Case Rep
Assunto da revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Ano de publicação:
2020
Tipo de documento:
Artigo
País de afiliação:
Índia
Instituição/País de afiliação:
Post Graduate Institute of Medical Education and Research/IN
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