Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
| Autor: | Sonal Singla, Kirti Gupta, Pradip Paria, Sayeeda Zahan, Manoj Gopal Madakshira, Jitendra Kumar Sahu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Autopsy SMN1 Disease Degeneration (medical) Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Internal Medicine medicine neurogenic atrophy Gliosis microvesicular steatosis business.industry Skeletal muscle Spinal muscular atrophy Spinal cord SMA medicine.disease 030104 developmental biology medicine.anatomical_structure Article / Autopsy Case Report business 030217 neurology & neurosurgery spinal muscular atrophy type I |
| Zdroj: | Autopsy & Case Reports |
| ISSN: | 2236-1960 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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