Neurofibromatosis type 1 presenting as progressive proximal muscle weakness: An uncommon presentation mimiking proximal myopathy

Abstract

There are three clinically and genetically distinct forms of neurofibromatosis (NF), NF type 1, type 2 and schwanomatosis. The hallmarks of NF type 1 are the multiple café-au-late macules and associated cutaneous neurofibromas. There are various causes for generalized muscle weakness in neurofibromatosis. But progressive proximal muscle weakness is rare in NF type 1. We present an unusual case due to neurofibromas in multiple nerve roots and nerve plexuses.