DYSTONIA

 

BASAL GANGLIA DISORDERS

GM1 GANGLIOSIDOSIS (GLB1)

TYPE 1  (INFANTILE) 

COGNITION/ SEIZURES

CORNEAL OPACITY

TYPE 2 (JUVENILE)

COGNITION/ DYSTONIA

ORGANOMEGALY/ CHERRY RED SPOT

TYPE 3 (ADULT)

DYSTONIA/ SPINAL BONY ABNORMALITY

ANGIOKERATOMA (TRUNK)

LIKE IN FABRY'S DISEASE

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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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BRAIN MINERALIZATION DISORDERS

VAC14

COGNITION

ATAXIA/ SPASTICITY

RETINITIS PIGMENTOSA

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KUFOR RAKEB

NARROW THERAPEUTIC WINDOW

FOR LEVODOPA

PEAK DOSE DYSKINESIA

VISUAL HALLUCINATIONS

FACIAL-FAUCIAL-FINGER MYOCLONUS

SPASTICITY/ COGNITION

OCULOGYRIC DYSTONIC SPASMS

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PLAN (PLA2G6)

DYSTONIA/ PARKINSONISM

ATAXIA/ SPASTICITY

LEVODOPA INDUCED EARLY DYSKINESIA

INVOLVING LOWER FACE

TRUNCAL DYSTONIA

PHENOTYPES:

DYSTONIA PARKINSONISM

SPASTIC PARAPARESIS

CEREBELLAR ATAXIA

RX: LEVODOPA PARTIALLY RESPOSIVE

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WILSON DISEASE 

LIVER/ NEUROLOGICAL/ PSYCHIATRY

DYSTONIA/ CHOREA/ PARKINSONISM

DEPRESSION/ OCD/ PHOBIAS

PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT/ KF RING

CARDIOMYOPATHY/ ARRYTHMIAS

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SLC30A10/ SLC39A14

POLYCYTHEMIA

FINE TREMOR/ SPASTIC PARAPARESIS

 

PRIMARY DYSTONIAS

DYT3 (TAF1)

PARKINSONISM​

ONLY MALES AFFECTED

X-LINKED RECESSIVE

JAW AND NECK DYSTONIA COMMON

LATER BECOME GENERALIZED

UL DYSTONIA (LESS COMMON)

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DYT5 (GTPCH) (AD) 

MOST COMMON

ANY AGE PRESENTATION

PARKINSONISM/ DYSTONIA/ OCD

SPASTICITY/ SCOLIOSIS

RX: EXCELLENT RESPONSE TO LEVODOPA 

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DYT12 (ATP1A3)

ROPD

AGE OF ONSET 4- 55 YRS

DYSTONIA WITH PARKINSONISM OVER DAYS TO WEEKS

TRIGGER: FEVER/ STRESS/ ALCOHOL

ABRUPT ONSET THEN STABILIZES  THEN MILD IMPROVEMENT

POOR LEVODOPA RESPONSE

CAPOS

CEREBELLAR ATAXIA/ PES CAVUS 

OPTIC ATROPHY/ HEARING LOSS

ALTERNATING HEMIPLEGIA OF CHILDHOOD

PAROXYSMAL

HEMIPLEGIA/ QUADRIPARESIS/ DYSTONIA

 

DYT16 (PRKRA)

DYSTONIA PARKINSONISM

PROMINANT BULBAR

RX: GPI DBS MAY BE USEFUL