title: Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with degeneration of the anterior horn cells in the spinal column. Five SMA subtypes exist with classification dependent upon the motor milestones achieved. Study of the SMN1 (survival motor neuron) and SMN2 genes as well as the concepts of the "2 + 0" carriers, gene conversion, de novo mutations and intragenic mutations allow for a better understanding of SMA. Detailing the carrier and diagnostic testing options further deepens the genetic counselor's knowledge of SMA. A review of care guidelines and research options is included as this information gives a patient a well-rounded view of SMA. Although SMA is most commonly associated with the SMN1 gene, a number of spinal muscular atrophies not caused by genetic changes in this gene may be included as differential diagnoses until confirmatory testing can be completed. SMA is a complex condition requiring a detailed knowledge on the genetic counselor's part in order to explain the disorder to the patient with clarity thus facilitating increased communication and decision making guidance with the patient.
authors.affiliation: Department of Obstetrics and Gynecology, Drexel University College of Medicine, 216 N. Broad St, Feinstein Building 4th Floor, MS 990, Philadelphia, PA, 19102, USA. amanda.carre@drexelmed.edu.
authors.forename: Amanda
authors.initials: A
authors.lastname: Carré
authors.affiliation: Integrated Genetics, Laboratory Corporation of America® Holdings, Philadelphia, PA, USA.
authors.forename: Candice
authors.initials: C
authors.lastname: Empey
mesh_terms: D001291:Attitude of Health Personnel; D002648:Child; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal; D011296:Prenatal Diagnosis / Q000379:methods*; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
keywords: Carrier screening; Diagnostic testing; Genetic counseling; Pediatric; Prenatal; Spinal muscular atrophy