Pereda CH, Fernández HLM, Pérez EY

Language: Spanish
References: 0
Page: 815-822
PDF size: 237.55 Kb.

ABSTRACT

Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis. Severe prenatal expression produces a diminution in fetal movements and generates multiple joint contractures.
Objectives: to present the clinical-genetic characteristics of a patient with multiple arthrogryposis secondary to spinal muscular atrophy.
Method: an observational, descriptive, case report type study was carried out. The prenatal, perinatal and postnatal history of the patient was described. The information was obtained through a detailed review of the genetic history and was submitted with a prior informed consent of the relatives.
Results: prenatal history of pregnancy at risk by advanced maternal age and an adenocarcinoma of the right ovary which was excised in the third trimester. Preterm birth by Caesarean section presented low Apgar due to respiratory distress. Generalized muscular hypotonia is observed, absence of osteotendinous reflexes, deformities in all of the four limbs, contractures at the level of large joints. Its unfavorable evolution motivated the performance of molecular study for spinal muscular atrophy which was positive for deletion of exon 7 of the SMN1 gene.
Conclusions: arthrogryposis, as a multifactorial condition, can be as a result of environmental phenomena of prenatal origin and genetic neuromuscular diseases. The severity of this case stands in the mixed component of its etiology.