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Órgano Oficial del Instituto Nacional de Pediatría

2020, Number 2

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Acta Pediatr Mex 2020; 41 (2)

Demographic and clinical profile in patients with Spinal Muscular Atrophy: Series of 31 patients

Urrutia-Osorio ME, Ruiz-García M

Language: Spanish
References: 33
Page: 47-57
PDF size: 208.51 Kb.


ABSTRACT

Background: Spinal muscular atrophy (SMA) is the main cause of death due to genetic disease in infants. It is a disorder caused by the degeneration of the motor neurons of the anterior horn of the spinal cord. The clinical manifestations are weakness, hypotonia, atrophy and psychomotor delay.
Objective: The aim of this study is to present the clinical manifestations in mexican patients that could provide useful information to recognize promptly SMA and start the implementation of the therapeutic management.
Patients and Methods: Retrospective, retrolective, observational and descriptive study in which patients with clinical and/or molecular diagnosis of SMA were included. The main demographic and clinical characteristics of this series of patients are described.
Results: 31 patients, 15/31 with SMA I, 13/31 with SMA II and 3/31 with SMA III. All patients presented with muscle weakness, hypotonia and delayed psychomotor development. The diagnosis was made at an average age of 30.81 months, median of 23, minimum 2 and maximum 108 months. Genetic diagnosis was made on 23/31. Patients with SMA I had a fatal outcome.
Conclusions: SMA I is the most frequent type. Severe weakness and respiratory tract infections are the most common reasons for consultation in SMA patients. Patients with SMA III have a debut of the disease with orthopedic complications, which generate disability later in life. There is a very important diagnostic delay of the disease and important therapeutic limitations in Mexico, which limits the quality of life and prognosis of patients with SMA in this country.


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