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Volume 8
Journal of Alzheimers Disease & Parkinsonism
Dementia 2018
December 13-15, 2018
Page 46
Notes:
December 13-15, 2018 Abu Dhabi, UAE
13
th
Annual Conference on
Dementia and Alzheimer's Disease
Paroxysmal Kinesigenic Dyskinesia with genetic diagnosis of Wilsons disease
Rajib Dutta
West China School of Medicine, China
P
aroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is
characterized by recurrent, brief dyskinesia attacks from seconds to 5 minutes triggered by sudden voluntary movement
like dystonia , tremor ,myoclonic jerks .Ion channelopathy has been suggested, since the disease responds well to moderate
dosage of carbamazepine/oxcarbamazepine.Secondary causes of PKD which may well be associated with wilsons disease and
other concurrent movement disorders should be sorted out if no evidence of ion channelopathy or genetic mutation is present.
A 22 year male patient presented to our OPD with voluntary movement of Right hand with minimal dystonia present in
resting as well as moving state , depression caused because of not able to perform daily activities .The patient was diagnosed
initially with PKD because it lasted for few seconds to 2 minutes. Routine labs were performed including blood ceruloplasmin
,urine and serum copper which was consistent with diagnosis of WD. The ATP 7B gene mutation was positive in this case
with no hepatic involvement .PKD gene testing was negative.Patient was started on traditional dosage of D -Penicillamine and
being continued long term.For PKD we gave 50 mg bid dose of carbamazepine which was later increased to 100 mg bid with
complete resolution of dyskinesia and depression. We think PKD might be secondary to WD in our case or some unknown
ion channelopathy might be present which is not yet reported till date.Response to CMZ and penicillamine was very obvious.
Myoclonus of PKD can be easily confused with myoclonic epilepsy and use of antiepileptic drug may be inappropriate in this
setting. So careful monitoring of symptoms as well as associations with other diseases should be considered while evaluating
this type of rare treatable cases. Inappropriate treatment can easily exacerbate the symptoms and can degrade the quality of life
in young patients.
Biography
Rajib Dutta a postgraduate neurology trainee 1st year in china with MRCP UK London, Diploma in emergency Medicine and critical care (Royal college UK),
Diploma in clinical neuropsychology (UK),Pediatric Neurology certification BPNA (UK, ongoing), Neuroscience and neuroimaging courseJohn Hopkins University
university(on going).I have recently submitted a meta analyses of vit D and its association with PD in frontiers of neuroscience under review, ma 2 antibody with
MDS, working on WD with secondary PKD, Face of Giant Panda in WD, PARK 2 neuropathy, EA 2 with novel mutation, DYT -27, Perry syndrome and so on.
Rajib Dutta, J Alzheimers Dis Parkinsonism 2018, Volume 8
DOI: 10.4172/2161-0460-C8-057