A patient with neurofibromatosis type 1 and myotonic dystrophy type 1

Abstract

The association of two neurological disorders in one patient can result in diagnostic delay despite the presence of well known clinical features. We present here a patient with neurofibromatosis type 1 and concurrent myotonic dystrophy type 1, the latter diagnosed five years after its initial symptoms. The clinical features and the inheritance pattern common to both diseases are reviewed. Although both are autosomal dominant, the influence of genomic imprinting and parental lineage on their transmission and phenotype can differ. Appropriate genetic counseling is crucial in disorders affecting fertility like myotonic dystrophy type 1, and depends on early diagnosis. Awareness of such a diagnostic combination allow for early diagnosis and prevent delays in proper clinical management.