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COGNITION

 

STEREOTYPE

DOWN SYNDROME (TRISOMY 21)

FLAT FACE/ SHORT NECK

UPWARD SLANT EYES

BRUSHFIELD'S SPOT (WHITE SPOTS ON IRIS)

COGNITIVE ISSUES

TICS

HUNTINGTON DISEASE (CAG REPEAT HTT 4p16.3)

CHOREA (90%)

PSYCHIATRIC MANIFESTATIONS

PARKINSONISM/ DYSTONIA

ATAXIA/TICS

NO FAMILY HISTORY (8%)

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 

DRUG TIC
AI TICS
DYS TICS
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AKATHISIA

ANTI DOPAMINERGIC WITHDRAWAL

ANTI DOPAMINERGIC WITHDRAWAL

 

TCA

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DYM TIC
CHO TIC
ATX TIC
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DYSTONIA

STEREOTYPE

RETT SYNDROME (MECP2)

FEMALES AFFECTED MORE

CHOREA/ AUTISMSTEREOTYPE

HAND WRIGGING/ CLAPPING/ RUBBING

MICROCEPHALY

NORMAL TILL 6-18 MONTHS

HYPERVENTILATION

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

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

WILSON'S DISEASE  

LIVER/ NEUROLOGICAL/ PSYCHIATRY

DYSTONIA/ CHOREA/ PARKINSONISM

DEPRESSION/ OCD/ PHOBIAS

PROTEINURIA/ ARTHRITIS/ SUNFLOWER CATARACT/  KF RING

CARDIOMYOPATHY/ ARRHYTHMIAS

LESCH NYHAN SYNDROME

DYSARTHRIA/ DYSTONIA/ TICS

ARTHRITISSELF MUTILATION

PHENYLKETONURIA

CAN PRESENT IN ADULTHOOD

COGNITIVE ISSUES/ LEUKODYSTROPHY

PARKINSONISM/ TREMOR

 

GNAO1

FACE DYSTONIA

HAND STEREOTYPE

TICS

TOURETTE

AGE OF ONSET 2-15YRS

MOTOR AND VOCAL TICS

DYSTONIC TICS

4 TIME MORE COMMON IN MALES

TICS CAN OCCUR IN SLEEP

LESCH NYHAN SYNDROME

DYSARTHRIA/ DYSTONIA/ TICS

ARTHRITISSELF MUTILATION

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

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

WILSON DISEASE  

LIVER/ NEUROLOGICAL/ PSYCHIATRY

DYSTONIA/ CHOREA/ PARKINSONISM

DEPRESSION/ OCD/ PHOBIAS

PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT/  KF RING

CARDIOMYOPATHY/ ARRHYTHMIAS

SELF MUTILATION

TOURETTE

AGE OF ONSET CHILDHOOD TO ADOLESCENCE

MOTOR AND VOCAL TICS

M : F = 4 : 1

TICS CAN OCCUR IN SLEEP

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

LESCH NYHAN SYNDROME

DYSARTHRIA/ DYSTONIA/ TICS

ARTHRITISSELF MUTILATION

PHENYLKETONURIA

CAN PRESENT IN ADULTHOOD 

COGNITIVE ISSUES/ LEUKODYSTROPHY

PARKINSONISM/ TREMOR

FBX07 (PARK15)

PYRAMIDAL/ PSYCHIATRY

CHOREA/ PARKINSONISM

VSGP

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

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

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

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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)

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)

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)

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

SELF MUTILATION

CRI-DU-CHAT 

CHROMOSOME 5P DELETION

LEARNING DISABILITY/ MICROCEPHALY

ROUND FACE/ HYPERTELORISM

SHORT PHILTRUM/ MICROGNATHIA

HIGH PITCH CRY

PRADER WILLI SYNDROME

CHROMOSOME 15Q DELETION

LEARNING DISABILITY

HYPOGONADISM

SHORT STATURE/ OBESITY

ANGELMAN SYNDROME (UB33A)

COGNITIVE DECLINE

FREQUENT LAUGHING/ SMILING

MICROCEPHALY/ SEIZURES

ATAXIA/ TREMORS

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

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

TICS

PANDAS

STREPTOCOCCAL INFECTION

TICS/ OCD

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

METABOLIC/ DRUGS

 

STEREOTYPE

PSYCHOSTIMULANTS DRUGS

 

LAMOTRIGINE

 

BUSPIRONE

 

TARDIVE

TICS

PSYCHOSTIMULANTS DRUGS

 

TARDIVE SYNDROME

SELF MUTILATION

DOPAMINE AGONIST

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