Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic
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 presen...
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| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2024.1476977/full |
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| author | María Belén Martín-Sanz Delvis Lucas-Muñoz Manuel Colomé-Hidalgo Manuel Colomé-Hidalgo |
| author_facet | María Belén Martín-Sanz Delvis Lucas-Muñoz Manuel Colomé-Hidalgo Manuel Colomé-Hidalgo |
| author_sort | María Belén Martín-Sanz |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ff5bb6ff379041d288e62be19cfffca6 |
| institution | Kabale University |
| issn | 1662-453X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neuroscience |
| spelling | doaj-art-ff5bb6ff379041d288e62be19cfffca62025-01-08T06:12:05ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2025-01-011810.3389/fnins.2024.14769771476977Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican RepublicMaría Belén Martín-Sanz0Delvis Lucas-Muñoz1Manuel Colomé-Hidalgo2Manuel Colomé-Hidalgo3Research Group of Humanities and Qualitative Research in Health Science, King Juan Carlos University, Alcorcón, SpainHospital Pediátrico Dr. Hugo Mendoza, Santo Domingo, Dominican RepublicHospital Pediátrico Dr. Hugo Mendoza, Santo Domingo, Dominican RepublicUniversidad Autónoma de Santo Domingo, Santo Domingo, Dominican RepublicSpinal 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.https://www.frontiersin.org/articles/10.3389/fnins.2024.1476977/fullspinal muscular atrophy (SMA)type ISMN1Werdnig Hoffmann diseasemotor neuron disease, progressive muscular atrophies |
| spellingShingle | María Belén Martín-Sanz Delvis Lucas-Muñoz Manuel Colomé-Hidalgo Manuel Colomé-Hidalgo Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic Frontiers in Neuroscience spinal muscular atrophy (SMA) type I SMN1 Werdnig Hoffmann disease motor neuron disease, progressive muscular atrophies |
| title | Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic |
| title_full | Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic |
| title_fullStr | Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic |
| title_full_unstemmed | Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic |
| title_short | Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic |
| title_sort | spinal muscular atrophy type 1 in the caribbean the first case report from the dominican republic |
| topic | spinal muscular atrophy (SMA) type I SMN1 Werdnig Hoffmann disease motor neuron disease, progressive muscular atrophies |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2024.1476977/full |
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