Session Information
Session Title: AA 2021 Virtual Posters - Neurological Rehabilitation
Session Time: None. Available on demand.
Disclosures: Eytan Rosenbloom, DO: No financial relationships or conflicts of interest
Case Diagnosis: Varying phenotypic expression in a set of twins and their sister with genetically confirmed Limb Girdle Muscular Dystrophy 2C (LGMD 2C) from consanguineous asymptomatic carrier parents.
Case Description: Case 1: 14-year-old female diagnosed with LGMD 2C after having difficulty climbing steps at age 6. She required a wheelchair by age 10, BiPap at night by age 13, and power wheelchair by age 14. Case 2: 12-year-old twin male diagnosed with LGMD 2C after having trouble climbing steps at age 6. By age 11, he required a wheelchair and BiPap. By age 12, required a power wheelchair. Case 3: 12 year old twin female diagnosed with LGMD 2C after having increased difficulty standing at age 6. She required special education but transitioned to regular education at 5th grade, and by age 9, required BiPap. She does not require any assistive devices, although, she has to crawl to go upstairs.
Setting: OutpatientAssessment/
Results: Genetics testing for the siblings shows a homozygous c.525delT pathogenic variant. Although Case 2 and 3 are twins, Case 2 has had a more progressive course, requiring a power wheelchair while his twin ambulates without any assistive devices. Case 1 had the most severe disease and required a wheelchair by age 10.
Discussion: LGMD 2C is an autosomal recessive form of LGMD and caused by a single mutation in the gamma sarcoglycan protein gene. It is regarded as one of the more severe forms of LGMD with early loss of ambulation. A case series with three siblings, including twins has not been reported previously. This case series shows intrafamilial phenotypic variability of LGMD 2C between twins and siblings.
Conclusion: This case series highlights the varying phenotypic expression of LGMD between siblings and more importantly, in twins. Twin studies are important in determining the factors contributing to disease progression and phenotypic expression.
Level of Evidence: Level V
To cite this abstract in AMA style:
Rosenbloom E, Anziska Y, Juan CS, Stickevers S. Three Siblings with Varying Phenotypic Expression of Limb Girdle Muscular Dystrophy 2C: A Case Series [abstract]. PM R. 2021; 13(S1)(suppl 1). https://pmrjabstracts.org/abstract/three-siblings-with-varying-phenotypic-expression-of-limb-girdle-muscular-dystrophy-2c-a-case-series/. Accessed May 28, 2025.« Back to AAPM&R Annual Assembly 2021
PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/three-siblings-with-varying-phenotypic-expression-of-limb-girdle-muscular-dystrophy-2c-a-case-series/