Unravelling limb-girdle muscular dystrophy in an HIV patient: a diagnostic odyssey

Abstract

Background: Neuromuscular complications are common in patients with HIV/AIDS at any stage of the disease process. Myopathies can be secondary to antiretroviral therapy, HIV myositis itself or other aetiologies. Progressive muscle weakness in an HIV patient often poses a diagnostic challenge. Case presentation: A 35-year-old lady with a 4-year history of progressive proximal weakness of both lower limbs, followed upper limbs for about 2 years duration associated with muscle pain, was referred to us with a tentative diagnosis of polymyositis. There was no history of diplopia, dysphagia, dysarthria, neck muscle, facial muscles or respiratory muscle weakness. Her medical history was also notable for HIV (prior CD4 nadir was 419 cells/mm3), diagnosed 10 years ago. She was on antiretroviral therapy (ART) regimen of tenofovir, lamivudine and efavirenz. There was no muscle atrophy/fasciculations; sensory system was normal, with preserved deep tendon reflexes. After extensive workup including clinical history, physical examination, laboratory markers and electromyography, a possibility of a genetic aetiology was considered. Whole exome sequencing showed compound heterozygous pathogenic variants in DYSF gene. Finally, the patient was diagnosed as LGMDR2 clinically and genetically. Conclusion: This case illustrates the importance of a good clinical history coupled with appropriate diagnostic workup, in clinching the diagnosis of muscular dystrophy in an HIV patient. © The Author(s) 2025.