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

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.