Course : ACMG Genomics Case Conference September 2017

Spinal Muscular Atrophy: A Timely Update

Hosted by The Ohio State University

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Course Description

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei. The disease is classified on the basis of age of onset and clinical course. SMA is caused by mutations in the telomeric copy of the survival motor neuron 1 (SMN1) gene, but all patients retain a centromeric copy of the gene, SMN2. The homozygous absence of the SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. In the majority of cases, the disease severity correlates inversely with an increased SMN2 gene copy number. Carrier detection, in the deletion cases, relies on the accurate determination of the SMN1 gene copies. Since SMA is one of the most common lethal genetic disorders, with a carrier frequency of 1/40-1/60, carrier screening has now been recommended by both ACMG and ACOG. Major progress has also been made by developing therapeutic strategies based on understanding the pathogenesis of the disease. As a result of the recent FDA approval of the antisense therapy (spinraza), support for presymptomatic treatment by newborn screening may become an effective strategy in the future. The webinar attempts to highlight the molecular genetics of SMA with a focus on diagnostics.

 Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release: September 20, 2017
Expiration Date: September 20, 2020
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

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Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1. Recognize the different clinical courses of type I, II and III SMA
2. Discuss the genotype/phenotype association for spinal muscular atrophy
3. Recognize the potential role of both carrier screening and newborn screening for SMA
4. Outline the pathogenesis of SMA
5. Provide insight into potential therapies for spinal muscular atrophy

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