CHOREA CHILDHOOD
STATIC/ MILD
ADCY5
AGE OF ONSET 1-20YRS
MYOCLONUS/DYSTONIA/CHOREA
CAN BE MILD/ STATIC
AXIAL HYPOTONIA/ FACIAL MYOKYMIA
FROG LIKE GAIT/ OCULOMOTOR APRAXIA
VERTICAL SACCADES ABNORMALITY
DROWSY/ BALLISTIC DYSTONIA (PAINFUL)
ADCY5 MIMICS
NKX2-1/ TITF1 (BHC)
DYT11
DYT24 (ANO3)
ALTERNATING HEMIPLEGIA (ATP1A3)
PARASOMNIAS
PDE10A MUTATIONS
RX: CAFFEINE/ ACETAZOLAMIDE/ CLONAZEPAM
DBS
PDE10A
AGE OF ONSET: 5-15YRS
DIURNAL VARIATION
BENIGN HEREDITARY CHOREA
(NKX2-1/TITF1)
LUNG: OBSTRUCTIVE/ INTERSTITIAL LUNG DISEASE/ RECURRENT INFECTIONS
THYROID: CONGENITAL HYPOTHYROIDISM
BRAIN: CHOREA/ MYOCLONUS/ DYSTONIA/ ATAXIA/ HYPOTONIA
OCD/ ADHD/ PSYCHOSIS
OTHER: WEB NECK/ SHORT STATURE/ JOINT HYPER-MOBILITY
MRI: CYSTIC CHANGES IN PITUITARY
PRRT2
SECONDS TO MINS DURATION
LIMBS > NECK OR FACE
BENIGN FAMILIAL INFANTILE EPILEPSY
INFANTILE CONVULSIVE
CHOREATHETOSIS (ICCA)
ABSENCE SEIZURE
PAROXYSMAL TORTICOLLIS
EPISODIC ATAXIA/ PED
TRIGGERS: STARTLE/ HYPERVENTILATION
EXERCISE
RX: CARBAMAZEPINE
SYDENHAM CHOREA
HYPERACTIVITY/ ADHD
CHOREA/ HYPOTONIA
VOCAL TICS/ CARDITIS
MIGRATING POLYARTHRALGIA
LATENCY BETWEEN GROUP A BETA HEMOLYTIC
STREOTOCOCCAL PHARYNGITIS AND CHOREA
COULD BE FEW MONTHS
LAB: ANTI-DNASE-B TITRE (ELEVATED FOR 1 YEAR)
ASO TITRE
CARDIAC 2D ECHO/ ECG
RX: SODIUM VALPROATE
RISPERIDONE/ TETRABENAZINE
MENTAL RETARDATION/ SEIZURES
GNAO1
PAROXYSMAL DYSTONIA/ CHOREA/ PKD
MENTAL RETARDATION/ FOCAL SEIZURES
GRIN1
MENTAL RETARDATION/ SEIZURES
CHOREA/ DYSTONIA
GPR88
AGE OF ONSET 8-10YRS
SPEECH DELAY/ LEARNING DISABILITY
GNB1
SIMILAR TO GNAO1
PAROXYSMAL DYSTONIA/ CHOREA
PROLONGED EPISODES
DYSTONIA MYOCLONUS / STEREOTYPE
MICROCEPHALY
FOXG1 MUTATION
NEURODEVELOPMENTAL DELAY
MICROCEPHALY
CHOREA DYSTONIA/ STEREOTYPE
RX: SOME CASES ARE LEVODOPA RESPONSIVE
DRPLA
<20YS: ATAXIA/ MYOCLONUS
SEIZURES/ CHOREA/ DYSTONIA
HIGH REPEATS
>20YRS: ATAXIA/ COGNITION
PSYCHIATRIC MANIFESTATIONS
CHOREA/ DYSTONIA
LOW REPEATS
PHENOTYPES:
LATE ONSET ATAXIA
HUNTINGTON'S DISEASE
MRI: CEREBELLAR/ BRAIN STEM ATROPHY
PERIVENTRICULAR AND CENTRAL PONS HYPERINTENSITY
MITOCHONDRIAL
ELAC2 MUTATION
CHILDHOOD/ RARELY ADULT ONSET
DELAYED PSYCHOMOTOR DEVELOPMENT
MITOCHONDRIAL DISORDER
CHOREA/ DYSTONIA
BILATERAL HEARING LOSS
HYPERTROPHIC CARDIOMYOPATHY
LAB: ACANTHOCYTES
METABOLIC/ SPORADIC
RHEUMATOLOGY/ IMMUNUNOLOGY
APLA SYNDROME
ARTHRALGIA/ STROKE
CELIAC
DIARRHOEA/ CHOREA
STIMULUS SENSITIVE MYOCLONUS
THYROPEROXIDASE ANTIBODIES
STROKE/ ATAXIA
DRUGS
DRUGS (TARDIVE)
LOWER FACE
IMPROVES WITH TALKING
AND TAKING TONGUE TONGUE OUT
PHENYTOIN
NORMAL/ HIGH LEVEL
VITAMIN DEFICIENCY
VITAMIN B12 DEFICIENCY
RARELY MOVEMENT DISORDER MANIFESTATION
CHOREA/ TREMOR/ MYOCLONUS
PARKINSONISM/ DYSTONIA
WERNICKE ENCEPHALOPATHY
ATAXIA/ OPHTHALMOPARESIS
CONFUSION/ UP-BEAT NYSTAGMUS
ELECTROLYTES/ ENDOCRINOLOGY
HYPOCALCAEMIA
PRIMARY HYPOPARATHYROISDIM
CAUSES:
DIGEORGE SYNDROME
AUTOIMMUNE
PTH GENE MUTATION
HYPERCALCAEMIA
COGNITION/ CHOREA (RARE)
CAN RARELY MIMIC HUNTINGTON DISEASE
HYPOMAGNESEMIA
VERTICAL NYSTAGMUS
ATAXIA
HYPERTHYROIDISM
HYPERGLYCEMIA (NON-KETOTIC)
INFECTIONS/ POST INFECTIOUS
HIV INFECTION
OTHERS
PCV (JAK2)
LATE ONSET
MILD GENERALIZED CHOREA
EXECUTIVE DYSFUNCTION
LAB: INCREASED HEMOGLOBIN LEVEL
RX: HYDROXYUREA
SENILE CHOREA
SPORADIC LATE ONSET CHOREA
ETIOLOGIES:
DRUGS/ GENETIC/ AUTOIMMUNE
METABOLIC/ INFECTIONS
STROKE
BASAL GANGLIA
CHOREA ELDERLY
CORTICAL/ SUBCORTICAL
HUNTINGTON DISEASE (HTT 4p16.3)
CHOREA (90%)
PSYCHIATRIC MANIFESTATIONS
PARKINSONISM/ DYSTONIA
ATAXIA/TICS
NO FAMILY HISTORY IN 8%
DRPLA
<20YS: ATAXIA/ MYOCLONUS
SEIZURES/ CHOREA/ DYSTONIA
HIGH REPEATS
>20YRS: ATAXIA/ COGNITION
PSYCHIATRIC MANIFESTATIONS
CHOREA/ DYSTONIA
LOW REPEATS
PHENOTYPES:
LATE ONSET ATAXIA
HUNTINGTON'S DISEASE
MRI: CEREBELLAR/ BRAIN STEM ATROPHY
PERIVENTRICULAR AND CENTRAL PONS HYPERINTENSITY
C9ORF72 (ALS-FTD)
AGE OF ONSET 8-80YRS
PARKINSONISM/ CHOREA
DYSTONIA/ ATAXIA (RARE)
30% PRESENT WITH MOVEMENT DISORDER
PHENOTYPES:
HD/FTD
PSP/ CBS/ MSA
MND/ PLS
NIID (NOTCH2NLC GGC REPEAT)
ACTION/ POSTURAL TREMOR
DEMENTIA (ALZEIMER'S TYPE)
PARKINSONISM/ DYSTONIA
ATAXIA(50%)
PERIPHERAL NEUROPATHY
PERIPHERAL DENERVATION
AUTONOMIC DYSFUNCTION: MIOSIS
PHENOTYPE:
FXTAS PHENOTYPE
MSA/ PD PHENOTYPE
MRI: CORTICOMEDULLARY JUNCTION
DWI RIBBON LIKE HYPER-INTENSITIES
LEUKODYSTROPHY
BASAL GANGLIA
NEUROACANTHOCYTOSIS
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
PARKINSONISM (MAY BE PRESENTING SIGN)
RUBBER-MAN GAIT (KNEE AND HIP BUCKING)
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
MCLEOD (XK)
COGNITION/ CHOREA
PSYCHITRIC SYMPTOMS/ SEIZURES
NEUROPATHY/ MYOPATHY
CHF/ ATRIAL FIBRILLATION
HAEMOLYSIS
MRI: CAUDATE/ PUTAMEN ATROPHY
WHM
CEREBELLUM/ AFFERENTS
SPINOCEREBELLAR ATAXIA
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
SCA48/ SCAR16 (STUB1)
ATAXIA/ COGNITION
EXECUTIVE DYSFUNCTION
PSYCHIATRIC SYMPTOMS
HYPOGONADISM
OPHTHALMOPARESIS
DYSTONIA/ SPASTICITY/ CHOREA
MRI: DENTATE HYPERINTENSITY (T2)
CRAB SIGN
POSTERIOR VERMIS ATROPHY
FRAGILE X TREMOR ATAXIA SYNDROME
M (1:2500)/ F (1:5000)
PARKINSONISM (85%)
ATAXIA (85%)
TREMOR (90-100%)
COGNITION (50%)
RARELY CHOREA
PSYCHIATRIC MANIFESTATIONS
NEUROPATHY/ AUTONOMIC DYSFUNCTION
FEMALES: MILD AND LATE ONSET SYMPTOMS
EARLY MENOPAUSE/ IRREGULAR MENSES
MRI: MCP HYPERINTENSITY (LESS IN FEMALES)
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPLENIUM HYPERINTENSITY (F>M)
CENTRAL PONS HYPERINTENSITY (F>M)
RX: PARKINSONSIM RESPONSIVE TO LEVODOPA
AUTOIMMUNE
CV2/CRMP5
PARKINONSIM/ ATAXIA
AUTONOMIC DYSFUNCTION
MSP-P PHENOTYPE
BILATERAL OPTIC NEUROPATHY
SMALL CELL CARCINOMA LUNG
MRI: BASAL GANGLIA HYPERINTENSITY
PERIVENTRICULAR/ INTERNAL CAPSULE HYPERINTENSITY
CASPR2
LOWER LIMB ACTION MYOCLONUS
SEGMENTAL/ PROPRIOSPINAL MYOCLONUS
SMALL CALL CARCINOMA LUNG
THYOMOMA
MRI: BASAL GANGLIA HYPERINTENSITY
GAD AB
PHENOTYPE:
ATAXIA/ PARKINSONISM/ PSP
STIFF PERSON SYNDROME
STARTLE MYOCLONUS
OPSOCLONUS-MYOCLONUS
ORTHOSTATIC TREMOR
LIMBIC ENCEPHALITIS/ MTLE
ABNORMAL SACCADES
VELOCITY/LATENCY/ACCURACY
SACCADE INITIATION
EARLY UPGAZE PALSY
NYSTAGMUS
DOWN/ UP BEAT NYSTAGMUS
PERIODIC ALTERNATING NYSTAGMUS
FLUTTER/OPSOCLONUS
STIFF EYES
YO/HU AB
ASSOCIATION: SLE/SJOGREN/RA
CARCINOMA LUNG/ HODGKIN/ NON HODGKIN/ GASTRIC/COLON/ PROSTATE/ BLADDER/ BREAST/ PANCREATIC/ OVARY
IgLON5 AB
SLEEP PROBLEMS:
OSA/RBD/NREM/ STRIDOR
OCULAR:
SACCADIC INTRUSIONS/ VSGP
SYMPTOMS:
COGNITION/SEIZURES/ENCEPHALOPATHY
PARKINSONISM/DYSTONIA/ATAXIA
OROMANDIBULAR DYSTONIA
OROFACIAL DYSKINESIA
HYPEREKPLEXIA
MYORHYTHMIA/ TREMOR
AUTONOMIC DYSFUNCTION
DIABETES INSIPIDUS/ MYOKYMIA
PHENOTYPES:
CBS/ PSP/MSA/HD/SPS/MND