A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment

Dysferlinopathy is a type of myopathy with predominant deficiency of the dysferlin protein caused by mutations in the DYSF gene. The patients have defective skeletal muscle membrane repair. Dysferlinopathy is a spectrum of autosomal recessive neuromuscular disorders. To date, more than 450 different mutations have been reported in the DYSF gene, most being missense or nonsense mutations (http://www.dmd.nl). Because of the relatively acute onset and the remarkable inflammatory changes observable in muscle biopsies, dysferlinopathy has a big chance of being misdiagnosed as an inflammatory myopathy, and the patient consequently being prescribed steroid treatment [1].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research