ADCY5- Related Dyskinesia in a Child with Sleep Related Paroxysmal Dyskinesia
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SCIENTIFIC LETTER
ADCY5-Related Dyskinesia in a Child with Sleep Related Paroxysmal Dyskinesia Vikram V Holla 1
&
Koti Neeraja 1
&
Shweta Prasad 1,2
&
Nitish Kamble 1
&
Pramod Kumar Pal 1
Received: 20 August 2020 / Accepted: 7 October 2020 # Dr. K C Chaudhuri Foundation 2020
To the Editor: Adenylate cyclase-5 (ADCY5) gene related dyskinesia (ARD) is a rare autosomal dominant childhood onset paroxysmal hyperkinetic movement disorder prominent in the face and upper limbs and is often precipitated by arousal from sleep [1]. When the diagnosis is suspected, normal magnetic resonance imaging, temporal association of dyskinesia during arousal state in video electroencephalography (VEEG) and a pathogenic variant in ADCY5 gene confirms the diagnosis of ARD. A 5-y-old girl, with no significant past or family history, presented with a 3-y history of generalized paroxysmal chorea, 2–3 times a day, often after waking up from sleep, lasting 3–5 min, before spontaneously subsiding with no altered sensorium or behavior. Additionally, for past one-year, slurring of speech, drooling and swaying while walking with occasional falls during the episodes has been noted. On examination (Supplementary Video-1, Segment-1 & 2), there were episodes of generalized chorea with inter episodic mild choreiform movements in the face and upper limbs during activity. Deep tendon reflexes were brisk in all four limbs. Rest of the neurological and other systemic examination was normal. Routine blood investigations, MRI brain, and nerve conduction studies were normal. Video electroencephalography (VEEG) showed multiple episodes of chorea following arousal from sleep (Supplementary Video-1, Segment-3 & 4) with Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12098-020-03536-0) contains supplementary material, which is available to authorized users. * Pramod Kumar Pal [email protected] 1
Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bengaluru, Karnataka 560029, India
2
Department of Clinical Neurosciences, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bengaluru, Karnataka, India
otherwise normal awake and sleep recordings and no evidence of ictal or interictal discharges. Clinical exome sequencing showed a pathogenic heterozygous missense variant in exon-2 of the ADCY5 gene (chr3:p.1253G > A;p.Arg418Gln;ENST00000462833) confirming our diagnosis of ARD. The hallmark feature of ARD is the post arousal exacerbation of hyperkinetic movement disorder with phenomenology varying from chorea, athetosis, dystonia to myoclonus and can be demonstrated on VEEG [2]. Other precipitating factors can be intercurrent illnesses, prolonged rest, anxiety, laughter, and other stressors. Delayed motor and language development, axial hypotonia and brisk deep tendon reflexes can be seen in few. Investigations such as metabolic parameters, MRI of brain are essentially normal in ARD [2]. Till date, four cases of ARD have been describe
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