Familial nemaline myopathy and multiple sclerosis: a case report exploring a novel co-occurrence with familial clustering

Abstract

Nemaline myopathy (NM) and multiple sclerosis (MS) are distinct disorders with different genetic or epigenetic characteristics, and their co-occurrence has not been priorly documented. We report a 40-year-old male with a notable familial history of both NM and MS who was diagnosed with NM co-occurring with MS fulfilling the 2024 McDonald diagnostic criteria. This is the first report of NM with MS. The co-occurrence of myopathies and MS may suggest a potential association between hereditary myopathies and immune-mediated CNS pathology that warrants further investigation.