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

• Main Authors: Manoj Gopal Madakshira (Author), Sonal Singla (Author), Kirti Gupta (Author), Sayeeda Zahan (Author), Pradip Paria (Author), Jitendra Kumar Sahu (Author)
• Format: Book
• Published: University of São Paulo, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 de...