COGNITION
STEREOTYPE
DOWN SYNDROME (TRISOMY 21)
FLAT FACE/ SHORT NECK
UPWARD SLANT EYES
BRUSHFIELD'S SPOT (WHITE SPOTS ON IRIS)
COGNITIVE ISSUES
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TICS
HUNTINGTON DISEASE (CAG REPEAT HTT 4p16.3)
CHOREA (90%)
PSYCHIATRIC MANIFESTATIONS
PARKINSONISM/ DYSTONIA
ATAXIA/TICS
NO FAMILY HISTORY (8%)
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SELF MUTILATION​
ALZHEIMER’S (PSEN1)
EARLY ONSET ALZHEIMER'S
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
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AKATHISIA
ANTI DOPAMINERGIC WITHDRAWAL
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ANTI DOPAMINERGIC WITHDRAWAL
TCA
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DYSTONIA
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STEREOTYPE
RETT SYNDROME (MECP2)
FEMALES AFFECTED MORE
CHOREA/ AUTISM/ STEREOTYPE
HAND WRIGGING/ CLAPPING/ RUBBING
MICROCEPHALY
NORMAL TILL 6-18 MONTHS
HYPERVENTILATION
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SENDA (BPAN) (WDR45)
BIPHASIC CLINICAL PROFILE
CHILDHOOD-ONSET, DECLINE IN ADULT
SPASTIC PARAPLEGIA AND MENTAL
RETARDATION TILL 30YRS
PROGRESSES TO DYSTONIA AND PARKINSONISM
OTHER FEATURES:
SEIZURES/ LENNOX GESTAUT SYNDROME
BILATERAL OPTIC ATROPHY
RX: PARTIALLY LEVODOPA RESPONSIVE
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NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LESS COMMON: ATAXIA/ PARKINSONISM/ TICS/TREMOR
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
MCLEOD (XK)
COGNITION/ CHOREA
PSYCHIATRIC SYMPTOMS/ SEIZURES
NEUROPATHY/ MYOPATHY
CHF/ ATRIAL FIBRILLATION
HAEMOLYSIS
MRI: CAUDATE/ PUTAMEN ATROPHY
WHM
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WILSON'S DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/ SUNFLOWER CATARACT/ KF RING
CARDIOMYOPATHY/ ARRHYTHMIAS
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LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
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PHENYLKETONURIA
CAN PRESENT IN ADULTHOOD
COGNITIVE ISSUES/ LEUKODYSTROPHY
PARKINSONISM/ TREMOR
GNAO1
FACE DYSTONIA
HAND STEREOTYPE
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TICS
TOURETTE
AGE OF ONSET 2-15YRS
MOTOR AND VOCAL TICS
DYSTONIC TICS
4 TIME MORE COMMON IN MALES
TICS CAN OCCUR IN SLEEP
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LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
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PKAN (PANK2)
TYPICAL PKAN:
AGE OF ONSET <12YRS
DYSARTHRIA/ DYSTONIA/ OPISTHOTONUS
PRAYING MANTIS SIGN/ CHOREA
PARKINSONISM/ SPASTICITY/ OPTIC ATROPHY
RETINITIS PIGMENTOSA (25%)
ACANTHOCYTES (8%)
ATYPICAL PKAN:
EARLY CHILDHOOD TO LATE ADULTHOOD
SLOWER PROGRESSION
NEUROPSYCHIATRIC MANIFESTATIONS
OCD/ IMPULSIVITY/ DEPRESSION
PALILALIA/ TICS
CAN MIMIC JUVENILE PARKINSONISM
CAN MIMIC TOURETTE SYNDROME
RX: DEFERIPRONE 30MG/KG/DAY
MAY BE USEFUL (MIXED RESULTS)
DBS MAY BE USEFUL
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NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LESS COMMON: ATAXIA/ PARKINSONISM/ TICS/TREMOR
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
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WILSON DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT/ KF RING
CARDIOMYOPATHY/ ARRHYTHMIAS
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SELF MUTILATION​
TOURETTE
AGE OF ONSET CHILDHOOD TO ADOLESCENCE
MOTOR AND VOCAL TICS
M : F = 4 : 1
TICS CAN OCCUR IN SLEEP
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PKAN (PANK2)
TYPICAL PKAN:
AGE OF ONSET <12YRS
DYSARTHRIA/ DYSTONIA/ OPISTHOTONUS
PRAYING MANTIS SIGN/ CHOREA
PARKINSONISM/ SPASTICITY/ OPTIC ATROPHY
RETINITIS PIGMENTOSA (25%)
ACANTHOCYTES (8%)
ATYPICAL PKAN:
EARLY CHILDHOOD TO LATE ADULTHOOD
SLOWER PROGRESSION
NEUROPSYCHIATRIC MANIFESTATIONS
OCD/ IMPULSIVITY/ DEPRESSION
PALILALIA/ TICS
CAN MIMIC JUVENILE PARKINSONISM
CAN MIMIC TOURETTE SYNDROME
RX: DEFERIPRONE 30MG/KG/DAY
MAY BE USEFUL (MIXED RESULTS)
DBS MAY BE USEFUL
H-ABC/ DYT4 (TUBB4)
HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM
DYSTONIA/ ATAXIA/ COGNITION
WHISPERING DYSPHONIA
MICROCEPHALY/ SPASTICITY
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LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
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PHENYLKETONURIA
CAN PRESENT IN ADULTHOOD
COGNITIVE ISSUES/ LEUKODYSTROPHY
PARKINSONISM/ TREMOR
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FBX07 (PARK15)
PYRAMIDAL/ PSYCHIATRY
CHOREA/ PARKINSONISM
VSGP
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CHOREA
STEREOTYPE
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
RUBBER-MAN GAIT/DROP ATTACK
NEUROPATHY/ MYOPATHY
PSYCHIATRIC MANIFESTATIONS/ SEIZURE
HEPATO-SPLEENOMEGALY
LAB: CPK/ LFT ELEVATED
ACANTHOCYTES TO BE SEEN IN 1:1 DILUTION IN NORMAL SALINE WITH PHASE CONTRAST MICROSCOPE
ACANTHOCYTE CAN BE ABSENT
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TICS
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
RUBBER-MAN GAIT/DROP ATTACK
NEUROPATHY/ MYOPATHY
PSYCHIATRIC MANIFESTATIONS/ SEIZURE
HEPATO-SPLEENOMEGALY
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SELF MUTILATION​
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
RUBBER-MAN GAIT/DROP ATTACK
NEUROPATHY/ MYOPATHY
PSYCHIATRIC MANIFESTATIONS/ SEIZURE
HEPATO-SPLEENOMEGALY
FBX07 (PARK15)
PYRAMIDAL/ PSYCHIATRY
CHOREA/ PARKINSONSIM
VSGP
ATAXIA/ TREMOR
STEREOTYPE
FRAGILE-X SYNDROME
LONG NARROW FACE/ FLAT FEET
PROMINENT JAW AND FOREHEAD
AUTISM (30%)/ SEIZURES (15%)
MACROORCHIDISM AFTER PUBERTY
MALES (1:4000)/ FEMALES (1:8000)
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TICS
FRAGILE-X SYNDROME (FMR1)
LONG NARROW FACE/ FLAT FEET
PROMINENT JAW AND FOREHEAD
AUTISM (30%)/ SEIZURES (15%)
MACROORCHIDISM AFTER PUBERTY
MALES (1:4000)/ FEMALES (1:8000)
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SELF MUTILATION​
FRAGILE-X SYNDROME (FMR1)
LONG NARROW FACE/ FLAT FEET
PROMINENT JAW AND FOREHEAD
AUTISM (30%)/ SEIZURES (15%)
MACROORCHIDISM AFTER PUBERTY
MALES (1:4000)/ FEMALES (1:8000)
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SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
DYSMORPHISM
STEREOTYPE
CRI-DU-CHAT
CHROMOSOME 5P DELETION
LEARNING DISABILITY/ MICROCEPHALY
ROUND FACE/ HYPERTELORISM
SHORT PHILTRUM/ MICROGNATHIA
HIGH PITCH CRY
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SELF MUTILATION​
CRI-DU-CHAT
CHROMOSOME 5P DELETION
LEARNING DISABILITY/ MICROCEPHALY
ROUND FACE/ HYPERTELORISM
SHORT PHILTRUM/ MICROGNATHIA
HIGH PITCH CRY
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PRADER WILLI SYNDROME
CHROMOSOME 15Q DELETION
LEARNING DISABILITY
HYPOGONADISM
SHORT STATURE/ OBESITY
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ANGELMAN SYNDROME (UB33A)
COGNITIVE DECLINE
FREQUENT LAUGHING/ SMILING
MICROCEPHALY/ SEIZURES
ATAXIA/ TREMORS
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AUTOIMMUNE
STEREOTYPE
NMDA ENCEPHALITIS
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE LIP SMACKING/ TEETH CLENCHING
(CAN PRESENT IN SLEEP)
FACIAL DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
SYDENHAM LIKE PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
NEOPLASIA:
OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
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SUBACUTE SCLEROSING PAN ENCEPHALITIS
BEHAVIOR/ COGNITION/ SEIZURES
DYSTONIC MYOCLONUS (STEREOTYPICAL)
RETINITIS/ PAPILLEDEMA
LAB: ANTIMEASLES ANTIBODIES
> 1:4 CSF/ > 1:256 SERUM
EEG RADERMECKER COMPLEX:
HIGH AMPLITUDE BILATERAL SYNCHRONOUS SLOW WAVES
MRI: CEREBRAL ATROPHY
VENTRICULOMEGALY
PERIVENTRICULAR/ BRAIN STEM WMH
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TICS
PANDAS​
STREPTOCOCCAL INFECTION
TICS/ OCD
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SELF MUTILATION​
NMDA ENCEPHALITIS
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE LIP SMACKING/ TEETH CLENCHING
(CAN PRESENT IN SLEEP)
FACIAL DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
SYDENHAM LIKE PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
NEOPLASIA:
OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
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METABOLIC/ DRUGS
STEREOTYPE
PSYCHOSTIMULANTS DRUGS
LAMOTRIGINE
BUSPIRONE
TARDIVE
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TICS
PSYCHOSTIMULANTS DRUGS
TARDIVE SYNDROME
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SELF MUTILATION​
DOPAMINE AGONIST
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