OasisLMS

ACMG Education Webinar Series: Translating Genes into Health®

Date of Release: July 2, 2025

Expiration Date: July 2, 2027

Credits offered: AMA PRA Category 1 Credits™

Estimate time of completion: 1.0 hour

Expanding Phenotypes of Female Heterozygotes in X-Linked Neurogenetic Conditions

Sponsored by The Education and Professional Development Committee

Description

Historically categorized as either "X-linked recessive" or "X-linked dominant," X-linked neurogenetic conditions have long been considered male-predominant. However, emerging research and clinical evidence reveal that female heterozygotes—once thought to be largely unaffected—can experience significant symptoms due to variability in X-inactivation (lyonization). This paradigm shift is reshaping how these conditions are understood, diagnosed, and managed.

Join us for a one-hour webinar exploring the evolving clinical phenotypes of females with X-linked neurogenetic disorders. Through expert-led presentations featuring clinical cases, neuroimaging, genetic insights, and updated terminology, this session will provide valuable updates for clinicians, researchers, and genetic counselors.

Learning Objectives

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

• Discuss the mechanisms leading to variable penetrance and phenotype in heterozygotes with X-linked conditions.
• Explain the different phenotypes and data from multi-modal imaging in OTC heterozygotes.
• Summarize presentations in X-ALD females, pathophysiology, diagnostic/management strategies and emerging therapies.
• List DMD diagnostic strategies, clinical manifestations and appropriate management in DMD heterozygote females.
• Summarize presentations in PDHA1 females, pathophysiology, diagnostic/management strategies

CME AMA PRA Category 1 Credits^TM

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

Claiming your Educational Credits

This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care professionals who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare professionals should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to education@acmg.net