Abstract
Objectives Limb-Girdle Muscular dystrophy Type 2I (LGMD 2I) is an autosomal recessive muscular dystrophy caused by mutations in the FKRP gene and can be associated with a necrotizing myopathy.1
Methods A case report.
Results We present a case of an otherwise well 37-year-female with a 5 year history of proximal lower limb weakness with a prior episode of exercise-related rhabdomylosis. The creatine kinase (CK) was 3500 with a negative autoimmune and myositis panel. Needle EMG did not show myopathic features and MRI of the quadriceps was normal. FDG-PET scan showed increased uptake in lower limb muscles. A muscle biopsy demonstrated a necrotizing myopathy with dystrophic features. Subsequent genetic panel revealed a FKRP gene mutation.
The diagnoses of LGMD Type 2I with necrotising myopathy was made. IVIG and prednisolone was initiated with a reduction in CK to 2500. Weaning of prednisolone however resulted in a rise in CK. Azathioprine was added to the inmunotherapy with subsequent improvement in clinical signs and CK to <1000.
Conclusion The current case illustrates that FKRP gene mutations causing a genetic myopathy, can be associated with an inflammatory component that may be amenable to immunotherapy treatment.
Reference
Svahn J, Streichenberger N, Benveniste O, Menassa R, Michel L, Fayolle H, Petiot P. Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations. Neuromuscul Disord. 2015 Nov;25(11):865–8
