Case series of patients diagnosed with Type I Spinal Muscular Atrophy (Werdnig-Hoffmann) in Ecuador

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Nicolay Astudillo Mariño
Patricia Cecilia Erazo Noguera

Abstract

Introduction: Spinal muscular atrophy, the leading genetic cause of infant death, is a heterogeneous group of diseases characterized by the degeneration of motor neurons in the spinal cord and brainstem, resulting in hypotonia and muscle weakness. The objective is the description of 5 cases of patients with a genetic diagnosis of SMA type I, all patients with copy number for SMN2: 2 copies and SMN Gene 1 with homozygous deletion.


Methods: The clinical manifestations and genetic results of 5 patients diagnosed with SMA type I are described. The possibilities of treatment and multidisciplinary approach in the patients are also described.


Results: Five patients with a clinical and genetic diagnosis of Spinal Muscular Atrophy type I were included, two were male, three female, with an age range between 11 months and 22 months. The male: female ratio was 2: 3. The history of a first-line relative with spinal muscular atrophy was recorded in 1 of 5 patients. The absence of muscle stretch reflexes in the upper and lower extremities was a sign shared by 100% of the patients.


Conclusions: Increased attention to early diagnosis and management of spinal muscular atrophy has stimulated the development of guidelines and standards of care that have affected survival and the natural history of the disease. There is no effective medical treatment for spinal muscular atrophy. However, since discovering the disease-causing gene, significant progress has been made in understanding molecular pathogenesis, leading to the development of treatment options.

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How to Cite
Astudillo Mariño, N., & Erazo Noguera, P. C. (2022). Case series of patients diagnosed with Type I Spinal Muscular Atrophy (Werdnig-Hoffmann) in Ecuador. Revista Ecuatoriana De Pediatría, 23(1), 62-70. https://doi.org/10.52011/132
Section
Clinical Case
Author Biographies

Nicolay Astudillo Mariño, Centro de Enfermedades Neurológicas y Nutricionales de niños y adolescentes- CENNA, Quito

Pediatrician (UCE Ecuador), Pediatric Neurologist (UNAM Mexico), Master in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. (USJZ Spain), LINCA Certificate in medical treatment of Autism Spectrum Disorder. (Lima Peru). Health Services Administration (Ecuador), Medical-Administrative Director of the Center for Neurological and Nutritional Diseases of Children and Adolescents (CENNA). Former Director of the District Health Directorate 18D02, zonal 3. Pediatric neurology physician associated with Hospital Clínica Axxis, Quito. Pediatric neurology treating physician associated with Hospital de los Valles, Quito. Former Pediatric Neurology Treating Physician at the San Francisco de Quito Hospital, of the Ecuadorian Institute of Social Security, IESS. Member of the European Society of Pediatric Neurology. University Professor at the UCE and PUCE.

mceclip0.png  https://orcid.org/0000-0001-9839-4965

Patricia Cecilia Erazo Noguera, Centro de Enfermedades Neurológicas y Nutricionales de niños y adolescentes- CENNA

Médico Cirujano (PUCE Ecuador). Médico Residente Asistencial de Neurología Pediátrica del Centro de Enfermedades Neurológicas y Nutricionales de niños y adolescentes- CENNA.

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