2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Expanding the Phenotype of Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient With Autism Spectrum Disorder

Expanding the Phenotype of Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient With Autism Spectrum Disorder

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Pdf Summary

This case report discusses a patient with autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) and autism spectrum disorder (ASD). LGMDR3 is a genetic disorder characterized by progressive proximal muscle weakness, but there have been no previous reports of a connection between this disorder and neurodevelopmental disorders. The patient in this case had a genetic work-up that revealed homozygous pathogenic missense variants in the SGCA gene, confirming a diagnosis of LGMDR3. <br /><br />The patient exhibited atypical findings for LGMDR3, such as unilateral symptoms and an early age of onset. He also had speech delay, regression of speech milestones at 2 years of age, impaired eye contact, lack of initiation of social interactions, and toe walking. These cognitive and behavioral features are commonly associated with ASD. <br /><br />Further research is needed to better understand the correlation between SGCA gene variants and neurodevelopmental disorders. Additionally, larger cohorts should be studied to examine the development and behavioral aspects of this variant. <br /><br />This case expands our understanding of the phenotype of LGMDR3 by revealing an association with ASD. It suggests that there may be a wider range of symptoms and manifestations associated with this disorder than previously recognized.

Asset Subtitle

Presenting Author - Sivan Lewis, MD; Co-Author - Amy Woroch, MS, CGC; Co-Author - Mary Kate Hatch, MS, CGC; Co-Author - Reymundo Lozano, MD, MS;

Meta Tag

Brain/Nervous System

Clinical History

Exome sequencing

Genotype-Phenotype Correlations

Microarray

Musculoskeletal system

Phenotype

Risk Assessment

Sequencing

Susceptibility Locus

Co-Author Amy Woroch, MS, CGC

Co-Author Mary Kate Hatch, MS, CGC

Co-Author Reymundo Lozano, MD, MS

Presenting Author Sivan Lewis, MD

Keywords

autosomal recessive limb-girdle muscular dystrophy-3

LGMDR3

autism spectrum disorder

genetic disorder

progressive proximal muscle weakness

neurodevelopmental disorders

SGCA gene

pathogenic missense variants

cognitive and behavioral features

phenotype