Kauvery Hospital Chennai, a unit of Kauvery Group of Hospitals, on Tuesday announced successful treatments of rare Movement Disorders. The first patient, a girl from Bangladesh aged 5 was undergoing treatment for Myoclonic Epilepsy, (a type of seizure with sudden muscle spasm), for the last 2 years. As a result of this diagnosis, she was treated with multiple anti-epileptic medications. As she continued to have these clinical events in spite of treatment for epilepsy, she was brought to Kauvery Hospital at Chennai for further diagnosis and treatment.
After careful and thorough observation, the medical experts from Kauvery Hospital diagnosed that the girl was being mistakenly treated for fits, whereas she was exhibiting a rare movement disorder called Hyperekplexia, which is also called exaggerated startle reaction in which affected individuals have increased muscle tone (hypertonia) and exhibit the exaggerates startle reaction as a response to unexpected stimuli, especially loud noises.
The child underwent a test called video-EEG to prove that there was no epileptic basis for these abnormal clinical events. This study captures the brain activity with synchronised video recording and so a time locked capture of these abnormal movements can be done. This special study of the brain is used to distinguish seizures from other non-seizure problems. The family of the patient was then informed of the proper diagnosis and reassured that this was not a seizure disorder. The patient was administered appropriate medication and unwanted antiepileptic drug was removed, with good response.
Hyperekplexia is a rare genetic disorder. In most cases, it is inherited as an autosomal dominant trait, but can also follow autosomal recessive or X-linked inheritance. Mutations in some specific genes are associated with the condition. It is most often present at birth and affects both males and females. In some individuals, as in this instance, onset of the disorder may be delayed until adolescence or adulthood. However, many patients have a benign course with reduction in startle episodes as they grow up.
The second patient, a young adult aged 20, was undergoing treatment for seizures for almost 15 years for an involuntary movement that occurred especially when he woke from his sleep. These movements were quite dramatic, with flailing movements of the limbs but with preserved consciousness. The patient was on multiple drugs for epilepsy. A thorough understanding of his medical history and special testing using Video-EEG indicated that he was not suffering from seizures but that this was a rare disorder of the nervous system called Paroxysmal Non-Kinesogenic Dyskinesia (PNKD) that caused periods of involuntary movement like irregular shaking and writhing movements of the limbs. The patient and family were counselled and most of the unwanted anti-epileptic medications that he was taking were stopped.
Both patients are responding well to the treatment and are recovering.
Dr. Bhuvaneshwari Rajendran, Senior Consultant Neurology, and Neurophysiology, Kauvery Hospital, said, “Both these syndromes are very rare and cannot be easily identified. When these patients presented to us, we carefully studied their case history as they had features that were unique, and were not consistent with the diagnosis of ‘fits’. After a detailed clinical examination and after witnessing some of the episodes, it was clear that these clinical events were not seizures. We immediately organized Video- EEG (Electroencephalography- a test that detects abnormalities in your brain waves, or in the electrical activity of your brain) to capture episodes and proved that these episodes did not have an epileptic basis.”