Werdnig-Hoffmann Disease. Case Report
Keywords:
muscular atrophy, spinal, muscle hypotonia, neurodevelopmental disordersAbstract
Spinal muscular atrophy is the leading genetic cause of infant death. It is characterized by the degeneration of motor neurons in the spinal cord and brainstem, resulting in hypotonia and muscle weakness. Without effective medical treatment, type 1 is the most severe clinical form. We present a case diagnosed with spinal muscular atrophy type 1. The objective is to describe the clinical features, diagnosis, and outcome of a patient with Werdnig-Hoffmann syndrome, with a homozygous deletion of exon 7 of the survival gene of motor neurons 1. She suffered from pneumonia with a respiratory failure at 11 months of age, with a fatal outcome. Hence, the importance of working with a multidisciplinary team to consider the child's medical needs and respect the parents' decisions regarding their child's situation.
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Copyright (c) 2025 Niurka Mirabal Méndez , Mercedes Silva Rojas, Karel Yusaimi Hernández Pérez , Yoandy Díaz Martínez
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