Key result
First report links genetically confirmed nemaline myopathy with co-occurring multiple sclerosis.
Why the study?
Nemaline myopathy and multiple sclerosis are distinct disorders whose co-occurrence has not been previously documented, prompting investigation of potential associations.
Case Report (n=1)
This case report documents the first known co-occurrence of familial nemaline myopathy and multiple sclerosis, suggesting a potential link between hereditary myopathies and immune-mediated CNS pathology.
Answers are grounded in this paper and cite their sources.
Warrants vigilance for MS in nemaline myopathy with CNS features; leaves open a possible hereditary link requiring confirmation.
Background 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. Case presentation 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. Conclusion 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.
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Mohebi et al. (2026) conducted a case report in Nemaline myopathy and multiple sclerosis (n=1). Nemaline myopathy was evaluated. This report documents the first known co-occurrence of genetically confirmed nemaline myopathy and multiple sclerosis in a 40-year-old male, suggesting a potential link between the conditions.
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