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CASE REPORT article

Front. Neurosci.
Sec. Neurodegeneration
Volume 18 - 2024 | doi: 10.3389/fnins.2024.1476977

Spinal Muscular Atrophy Type 1 in the Caribbean: The First Case Report from the Dominican Republic

Provisionally accepted
MARIA BELEN MARTIN SANZ MARIA BELEN MARTIN SANZ 1*DELVIS LUCAS-MUÑOZ DELVIS LUCAS-MUÑOZ 2MANUEL COLOMÉ-HIDALGO MANUEL COLOMÉ-HIDALGO 3
  • 1 Rey Juan Carlos University, Móstoles, Spain
  • 2 Dr. Hugo Mendoza Pediatric Hospital, Santo Domingo, Distrito Nacional, Dominican Republic
  • 3 Universidad Autónoma de Santo Domingo, Santo Domingo, Distrito Nacional, Dominican Republic

The final, formatted version of the article will be published soon.

    Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient. In this report, we present the case discovery of a four-month-old male patient with SMA type 1, presenting with generalized hypotonia and regression of acquired neurodevelopmental milestones. Our study aims to illustrate, through a case report, the clinical analysis, therapeutic interventions, and progression until the patient's demise. This aims to share the challenges in managing such patients and the strategies employed in their care plan. By documenting this case, our goal is to contribute to the understanding of SMA type 1 and emphasize the ongoing need for learning effective care strategies.

    Keywords: spinal muscular atrophy (SMA), spinal muscular atrophy, Type I, SMN1, Werdnig Hoffmann Disease, motor neuron disease. Progressive Muscular Atrophies

    Received: 07 Aug 2024; Accepted: 06 Dec 2024.

    Copyright: © 2024 MARTIN SANZ, LUCAS-MUÑOZ and COLOMÉ-HIDALGO. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: MARIA BELEN MARTIN SANZ, Rey Juan Carlos University, Móstoles, Spain

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