A Call to Rename a Neurological Disorder
A new article in the journal *Brain* proposes a significant nosological shift for congenital myasthenic syndrome (CMS). The authors argue that the term “congenital” is increasingly inaccurate, as genetic testing reveals many patients with CMS-causing mutations present with symptoms not at birth, but later in childhood or even adulthood. They advocate for renaming the condition “genetic myasthenic syndrome” to better reflect its underlying etiology, improve diagnostic clarity, and align with modern genetic understanding across neurological and psychiatric disorders.
Why it might matter to you: This debate on diagnostic terminology has direct parallels in psychiatry, where conditions like bipolar disorder or schizophrenia spectrum disorders are also being refined through genetic research. A precise, etiology-driven naming convention can reduce stigma, guide more targeted treatment strategies, and improve patient communication. For clinicians and researchers focused on the genetic architecture of neuropsychiatric illness, this discussion underscores the ongoing evolution from symptom-based to mechanism-based classification.
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