ADCY5
CHILDHOOD - JUVENILE ONSET
MYOCLONUS/DYSTONIA/CHOREA
CAN BE MILD/ STATIC
OCULOMOTOR APRAXIA
VERTICAL SACCADES ABNORMALITY
DYSTONIA/ CHOREA/ PARASOMNIAS
ALTERNATING HEMIPLEGIA OF CHILDHOOD
DYSTONIA-MYOCLONUS
TREMOLOUS DYSTONIA
BALLISTIC DYSTONIA DURING DROWSY STATE (PAINFUL)
AXIAL HYPOTONIA/ FACIAL MYOKYMIA
FROG LIKE GAIT
RX: CAFFEINE / ACETAZOLAMIDE/CLONAZEPAM/ DBS
ADCY5 MIMICS
NKX2-1/ TITF1 (BHC)
DYT11
DYT24 (ANO3)
ALTERNATING HEMIPLEGIA (ATP1A3)
PARASOMNIAS
PDE10A MUTATIONS
PAROXYSMAL KINESOGENIC DYSTONIA
PRRT2 MUTATIONS
COMMON IN INDIA AND CHINA
SECONDS TO MINS DURATION
LIMBS > NECK OR FACE
BENIGN FAMILIAL INFANTILE EPILEPSY
INFANTILE CONVULSIVE
CHOREATHETOSIS (ICCA)
ABSENCE SEIZURE
PAROXYSMAL TORTICOLLIS
EPISODIC ATAXIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
TRIGGERS: STARTLE/ HYPERVENTILATION/ EXERCISE
RX: CARBAMAZEPINE
PYRUVATE DEHYDROGENASE DEFICIENCY
AGE OF ONSET 5M-15YRS
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
PAROXYSMAL KINESOGENIC DYSTONIA
RX: VIT-B1/ KETOGENIC DIET
GLUT1 (SLC2A1)
CHILDHOOD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY/ MENTAL RETARDATION
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING
TRIGGERS: FAST/INFECTIONS
LAB: CSF GLUCOSE <60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
GNAO1
PAROXYSMAL DYSTONIA/ CHOREA
PAROXYSMAL KINESOGENIC DYSTONIA
MENTAL RETARDATION/ FOCAL SEIZURES
GNB1
SIMILAR TO GNAO1
PAROXYSMAL DYSTONIA/ CHOREA
PROLONGED EPISODES
DYSTONIA MYOCLONUS
STEREOTYPE
MICROCEPHALY
PDE2A
PAROXYSMAL KINESOGENIC DYSTONIA
EPILEPSY
FGF14 (SCA27)
PAROXYSMAL KINESOGENIC DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
MR1 MUTATIONS
MINS TO HRS DURATION
TRIGERS: STRESS/ALCOHOL/ CAFFEINE
RX: CLONAZEPAM
ADCY5
CHILD - JUVENILE
MYOCLONUS/DYSTONIA/CHOREA
CAN BE MILD/ STATIC
OCULOMOTOR APRAXIA
VERTICAL SACCADES ABNORMALITY
DYSTONIA/ CHOREA/ PARASOMNIAS
ALTERNATING HEMIPLEGIA OF CHILDHOOD
DYSTONIA-MYOCLONUS
TREMOLOUS DYSTONIA
BALLISTIC DYSTONIA DURING DROWSY STATE (PAINFUL)
AXIAL HYPOTONIA/ FACIAL MYOKYMIA
FROG LIKE GAIT
RX: CAFFEINE / ACETAZOLAMIDE/CLONAZEPAM/ DBS
GLUT1 (SLC2A1)
CHILDHOOD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY/ MENTAL RETARDATION
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING
TRIGGERS: FAST/INFECTIONS
LAB: CSF<60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
PYRUVATE DEHYDROGENASE DEFICIENCY
AGE OF ONSET 5M-15YRS
PED/ PKD/ PNKD
RX: VIT-B1/ KETOGENIC DIET
ATP1A3
PAROXYSMAL NON KINESOGENIC DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
RAPID ONSET PARKINSONISM DYSTONIA
CACNA1A
PNKD/ PED
PAROXYSMAL TORTICOLLIS
EPISODIC ATAXIA
FGF14
PNKD/ PKD/ EPISODIC ATAXIA
EPILEPTIC CHOREA
PAROXYSMAL CHOREA
PAROXYSMAL UPGAZE
NORMAL VARIANT
NORMAL TILL < 2YRS
GRID2
ATAXIA
CACNA1
EPISODIC ATAXIA
PAROXYSMAL TORTICOLLIS
PRRT2
COMMON IN INDIAN AND CHINESE
SECONDS TO MINS DURATION
LIMBS > NECK OR FACE
BENIGN FAMILIAL INFANTILE EPILEPSY
INFANTILE CONVULSIVE
CHOREATHETOSIS (ICCA)
ABSENCE SEIZURE
PAROXYSMAL TORTICOLLIS
EPISODIC ATAXIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
TRIGGERS: STARTLE/ HYPERVENTILATION/ EXERCISE
RX: CARBAMAZEPINE
CACNA1A
PAROXYSMAL NON KINESOGENIC DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
EPISODIC ATAXIA
PAROXYSMAL TORTICOLLIS
PAROXYSMAL EXERCISE DYSTONIA
GLUT1 (SLC2A1)
CHILDHOOD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY/ MENTAL RETARDATION
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING
TRIGGERS: FAST/INFECTIONS
LAB: CSF<60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
GTPCH (AR)
INFANCY
RX: RESPONSIVE TO HIGH DOSE LEVODOPA
GTPCH (AD)
MOST COMMON
ANY AGE PRESENTATION
PARKINSONISM/ DYSTONIA/ OCD
SPASTICITY/ SCOLIOSIS
RX: EXCELLENT RESPONSE TO LEVODOPA
TYROSINE HYDROXYLASE - TYPE A
CEREBRAL PALSY/ JUVENILE PARKINSONISM
OGC/ UPPER LIMB DYSTONIA
AUTONOMIC DYSFUNCTION
RX: GOOD LEVODOPA RESPONSE
TYROSINE HYDROXYLASE - TYPE B
TREMOR/ PTOSIS/ MENTAL RETARDATION
AUTONOMIC DYSFUNCTION
HYPOTONIA/ DELAYED MILESTONES
RX: GOOD LEVODOPA RESPONSE
SEPIAPTERIN REDUCTASE DEFICIENCY
MICROCEPHALY
MENTAL RETARATION/ PARKINSONISM
OGC/ AUTONOMIC DYSFUNCTION
HYPOTONIA/ SPASTICITY
RX: HIGH DOSE OF LEVODOPA
PTP SYNTHASE DEFICIENCY
DYSTONIA/ EPILEPSY
RX: EXCELLENT LEVODOPA RESPONSE
AADC DEFICIENCY
PRESENTATIONS
SPASTIC DIPLEGIA LIKE CP
SPASTIC PARAPLEGIA
FOCAL DYSTONIA
RIGIDITY/ BRADYKINESIA
PAROXYSMAL MOVEMENT DISORDERS
INFANTILE ONSET:
HYPOTONIA
CAN MINIC NEUROMUSCULAR DISEASE
RIGIDITY/ MULTIFOCAL MYOCLONUS/ OGC
DIURNAL OR WEEKLY FLUCTUATIONS
RX: DOPAMINE AGONIST/ MAO INHIBITORS
PYRIDOXINE 100-200MG/DAY
FOLIC ACID
PARKINSON'S DISEASE (PARKIN)
FOOT DYSTONIA
PYRUVATE DEHYDROGENASE DEFICIENCY
AGE OF ONSET 5M-15YRS
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL KINESOGENIC DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
RX: VIT-B1/ KETOGENIC DIET
ECHS1 MUTATIONS
PAROXYSMAL EXERCISE INDUCED DYSTONIA
LEIGH/ LEIGH LIKE SYNDROME
GENERALIZED DYSTONIA
MRI: T2 GPI HYPERINTENSITY/ CYSTIC CHANGES
ATP1A3
PAROXYSMAL NON KINESOGENIC DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
RAPID ONSET PARKINSONISM DYSTONIA
CACNA1A
PAROXYSMAL NON KINESOGENIC DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
EPISODIC ATAXIA
PAROXYSMAL TORTICOLLIS
TBC1D24
PAROXYSMAL EXERCISE INDUCED DYSTONIA
DOORS SYNDROME: DEAFNESS
ONYCHODYSTROPHY/ OSTEODYSTROPHY
MENTAL RETARDATION/ SEIZURES
POLYMINIMYOCLONUS
SPG8
SPASTICITY
PAROXYSMAL EXERCISE INDUCED DYSTONIA
