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​
