PARKINSONISM
CORTICAL
CREUTZFELDT JACOB DISEASE
EXTRAPYRAMIDAL/ PYRAMIDAL
CEREBELLAR/ VISUAL
AKINETIC MUTISM
CORTICOBASAL SYNDROME
APRAXIA/ PARKINSONISM
UPPER LIMB/ LEG MYOCLONUS
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
PARKINSON'S DISEASE
PDD: CORTICAL MYOCLONUS
AMANTADINE:
OROFACIAL MYOCLONUS
GENERALIZED MYOCLONUS
MULTIPLE SYSTEM ATROPHY
PARKINSONISM/ ATAXIA
POLYMINIMYOCLONUS
AUTONOMIC DYSFUNCTION
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
DYSMORPHIC
22q11.2 DELETION (DiGEORGE SYNDROME)
ELONGATED FACE/ CLEFT PALATE
HYPOCALCEMIA
PARKINSONISM/ DYSTONIA-MYOCLONUS
EPISODIC SPASMS
SPASTICITY
CORTICAL
CREUTZFELDT JACOB DISEASE
EXTRAPYRAMIDAL/ PYRAMIDAL
CEREBELLAR/ VISUAL
AKINETIC MUTISM
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
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
