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

Autor:	Madakshira MG; Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India., Singla S; Post Graduate Institute of Medical Education and Research, Department of Pathology. Chandigarh, India., Gupta K; Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India., Zahan S; Post Graduate Institute of Medical Education and Research, Department of Paediatrics. Chandigarh, India., Paria P; Post Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India., Sahu JK; Post Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India.
Jazyk:	angličtina
Zdroj:	Autopsy & case reports [Autops Case Rep] 2020 Apr 23; Vol. 10 (2), pp. e2020157. Date of Electronic Publication: 2020 Apr 23.
DOI:	10.4322/acr.2020.157
Abstrakt:	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. Competing Interests: Conflict of interest: None (Autopsy and Case Reports. ISSN 2236-1960. Copyright © 2020.)
Databáze:	MEDLINE
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