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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

ELDERLY
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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

 

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