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Nondystrophic Myotonic Disorders: Cases From India

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Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 5 ¦ September-October 2021 771 In conclusion, although PDE is a rare genetic disorder mainly affecting neonates or infants,… Click to show full abstract

Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 5 ¦ September-October 2021 771 In conclusion, although PDE is a rare genetic disorder mainly affecting neonates or infants, it also should be kept in mind in the differential diagnosis of patients with seizures resistant to conventional treatments. PDE in adolescents should be suspected when there is mild intellectual disability, refractory epilepsy, and consanguinity. Further studies are mandatory to standardize diagnostic and therapeutic protocols for PDE and to determine short‐ and long‐term outcomes of patients.

Keywords: disorders cases; cases india; myotonic disorders; nondystrophic myotonic; neurology

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2021

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