Dual molecular diagnoses in a neurometabolic specialty clinic. Issue 3 (24th December 2020)

• Record Type: Journal Article
• Authors: Hannah‐Shmouni, Fady; Al‐Shahoumi, Rashid; Brady, Lauren I.; Wu, Lily; Frei, Julia; Tarnopolsky, Mark A.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 3(2021)
• Page Start: 766
• Page End: 773
• Publication Date: 2020-12-24
• Subjects: CPK -- dystrophy -- muscle -- neurometabolic; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62034
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Reports of patients with concomitant diagnoses of two inherited genetic disorders, sometimes referred to as "double trouble, " have appeared intermittently in the medical literature. We report eight additional cases with dual diagnoses of two genetic conditions. All cases had a phenotype atypical for their primary diagnosis, leading to the search for a second genetic diagnosis. These cases highlight the importance of the history, physical examination and continued work‐up if the phenotype of the patient falls drastically outside what has been reported with their primary diagnosis. Some of the diagnoses of the patients presented here (e.g., Myotonic Dystrophy Type 1, fascioscapulohumeral muscular dystrophy) would not have been identified by genetic testing done on a next generation sequencing backbone (e.g., panel or exome sequencing). When the clinical picture is atypical or more severe than expected the possibility of a dual diagnosis (double trouble) should be considered. Identification of a second genetic condition can impact management and genetic counseling.