Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes / Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy
Rev. méd. Chile
;
139(2): 197-204, feb. 2011. ilus, tab
Artículo
en Español
| LILACS
| ID: lil-595287
ABSTRACT
Background:
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death. It has been classified into three types based on the severity of symptoms. Type I SMA is the most severe form with death within the first 2 years of life. Type II and III SMA patients show intermediate and mild forms of the disorder.Aim:
To describe the clinical and electrophysiological findings of 26 Chilean patients with SMA with molecular confirmation. Patients andMethods:
Retrospective multicenter analysis of patients with SMA assessed between 2003 and 2010. The diagnosis was suspected on clinical and electrophysiological criteria. Since 2006 molecular genetics confirmation was implemented in one of our centers.Results:
Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58 percent) were males. SMA I, II and III clinical criteria were observed in 4 (15.4 percent), 11 (42.3 percent) and 11 (42.3 percent)patients, respectively. All had proximal muscle weakness and atrophy. Electromyography showed features of acute denervation or re-innervation with normal motor and sensory nerve conduction. Nine patients required a muscle biopsy. The genetic confirmation of the disease by PCR technique followed by restriction fragment length polymorphism method disclosed the SMN1 gene deletion in all 26 cases. All patients died secondary to respiratory failure, between eight and 14 months of life.Conclusions:
An adequate clinical and molecular diagnosis of spinal muscular atrophy will help for a better management of these patients.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Atrofia Muscular Espinal
Tipo de estudio:
Estudio observacional
Límite:
Adolescente
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2011
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Clínica Las Condes/CL
/
Instituto Nacional de Rehabilitación Pedro Aguirre Cerda/CL
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