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PARKINSONISM

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CORTICAL

CREUTZFELDT JACOB DISEASE

EXTRAPYRAMIDAL/ PYRAMIDAL

CEREBELLAR/ VISUAL

AKINETIC MUTISM

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CORTICOBASAL SYNDROME

APRAXIA/ PARKINSONISM

UPPER LIMB/ LEG MYOCLONUS

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BASAL GANGLIA

KUFOR RAKEB SYNDROME (ATP13A2) 

PARK9/ SPG78

COGNITION/ PARKINSONISM/ VSGP

VISUAL HALLUCINATION

LEVODOPA INDUCED DYSKINESIA

OCULOGYRIC CRISIS

FACIAL-FAUCIAL-FINGER-MYOCLONUS

SPG78: LATE SPASTICITY WITHOUT PARKINSONISM

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PARKINSON'S DISEASE 

PDD: CORTICAL MYOCLONUS

AMANTADINE:

OROFACIAL MYOCLONUS

GENERALIZED MYOCLONUS

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MULTIPLE SYSTEM ATROPHY

PARKINSONISM/ ATAXIA

POLYMINIMYOCLONUS

AUTONOMIC DYSFUNCTION

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GM2 GANGLIOSIDOSIS (TAY SACH) 

DEMENTIA-SEIZURES

ATAXIA-PARKINSONISM

PROGRESSIVE MYOCLONUS ATAXIA

SLOW MND/ SPASTICITY

STIMULUS SENSITIVE MYOCLONUS

CHERRY-RED SPOT FUNDUS

LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE

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DYSMORPHIC

22q11.2 DELETION (DiGEORGE SYNDROME)​

ELONGATED FACE/ CLEFT PALATE

HYPOCALCEMIA

PARKINSONISM/ DYSTONIA-MYOCLONUS

EPISODIC SPASMS

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SPASTICITY
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SPASTICITY

 

CORTICAL

CREUTZFELDT JACOB DISEASE

EXTRAPYRAMIDAL/ PYRAMIDAL

CEREBELLAR/ VISUAL

AKINETIC MUTISM

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BASAL GANGLIA

GTPCH1 (AD) 

CAN PRESENT AT LATER AGE

EARLY ONSET FOOT DYSTONIA (EQUINOVARUS)

OCCASIONALLY, UL DYSTONIA/ TREMOR

LATER PARKINSONISM WITH POSTURAL TREMOR

OCD/ SPASTICITY/ SCOLIOSIS

DIURNAL FLUCTUATIONS

PHENOTYPES:

BENIGN PARKINSONISM

FOOT DYSTONIA

MYOCLONUS DYSTONIA

SPASTIC PARAPARESIS

RX: EXCELLENT RESPONSE TO LEVODOPA 

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KUFOR RAKEB SYNDROME (ATP13A2) 

PARK9/ SPG78

COGNITION/ PARKINSONISM/ VSGP

VISUAL HALLUCINATION

LEVODOPA-INDUCED DYSKINESIA

OCULOGYRIC CRISIS

FACIAL-FAUCIAL-FINGER-MYOCLONUS

SPG78: LATE SPASTICITY WITHOUT PARKINSONISM

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