CORTICAL
RELN MUTATIONS
CHILD TO YOUNG ADULTHOOD
EXAGGERATED STARTLE
PSYCHIATRIC SYMPTOMS
ALCOHOL RESPONSIVE
KCNN2 MUTATIONS
AD INHERITENCE
COGNITION/AUTISM
ATAXIA/DYSTONIA/ PARKINSONISM
DISTAL MYOCLONUS (TREMOR LIKE)
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SYSTEMIC/ DYSMORPHISM
DiGEORGE SYNDROME
(22q11.2 DELETION)​
ELONGATED FACE/ CLEFT PALATE
PARKINSONISM/ DYSTONIA-MYOCLONUS
EPISODIC SPASMS
HYPOCALCEMIA
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18p DELETION
VSGP/ ATAXIA
BOUNCY GAIT/ KANGAROO GAIT
LEG MYOCLONUS
DYSMORPHISM
​
SILVER RUSSEL (mUPD7)
TRIANGULAR FACE
PHENOTYPE SIMILAR TO DYT11
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BASAL GANGLIA
PRIMARY DYSTONIA
DYT1 (TORIA)
AGE OF ONSET: 4-64 YRS
INITIALLY ACTION SPECIFIC DYSTONIA
LATER: REST DYSTONIA
WALKING/ WRITING
START IN THE LEG AND THEN INVOLVE THE ARMS
FOOT INVERSION/ EVERSION
KNEE/ HIP FLEXION
DYSTONIC LEG / ARM TREMOR
PHENOTYPES:
BLEPHAROSPASM
WRITER'S CRAMP (LATE-ONSET DYT1)
FOCAL DYSTONIA IN 20%
FLUCTUATING UNILATERAL DYSTONIA MYOCLONUS
GENERALIZED DYSTONIA
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DYT11 (SGCE)
AGE OF ONSET <20 YRS
HEAD/ ARM/ UPPER BODY
MYOCLONUS
OCD/ ANXIETY
RX: CLONAZEPAM/ VALPROIC ACID
TRIHEXYPHENIDYL
THALAMIC DBS
​
DYT15
MYOCLONUS DYSTONIA
GENE PRESENT ON 18P CHROMOSOME
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GNAL
AGE OF ONSET >20 YRS
CERVICAL/ CRANIAL
OROMANDIBULAR/ LARYNX
TREMOR
​
ANO3
ESSENTIAL TREMOR PHENOTYPE
CERVICAL DYSTONIA
FAST MYOCLONUS
​
KCDT17 (DYT26)
CHILD-ADULT
SPEECH/ OMD
CRANIO-CERVICAL DYSTONIA
ALCOHOL RESPONSIVE
​
KMT2B
LOWER LIMB ONSET/ GENERALIZED
PROMINENT OMD AND CERVICAL DYSTONIA/OPHISTOTONUS
MENTAL RETARDATION
MISSENSE VARIANT—LATE PRESENTATION
RX: DBS USEFUL
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GENERALISED
DOPAMINE BIOAMINE DEFECTS
GTPCH1 (AD)
CAN PRESENT AT LATER AGE
EARLY ONSET FOOT DYSTONIA (EQUINOVARUS)
OCCASIONALLY, UL DYSTONIA/ TREMOR
LATER PARKINSONISM WITH POSTURAL TREMOR
OCD/ SPASTICITY/ SCOLIOSIS
DIURNAL FLUCTUATIONS
PHENOTYPES:
BENIGN PARKINSONISM
FOOT DYSTONIA
MYOCLONUS DYSTONIA
SPASTIC PARAPARESIS
RX: EXCELLENT RESPONSE TO LEVODOPA
PAROXYSMAL DISORDERS
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)
RX: CAFFEINE/ACETAZOLAMIDE
CLONAZEPAM/ DBS
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
OTHERS: WEB NECK/ SHORT STATURE
JOINT HYPER-MOBILITY
MRI: CYSTIC CHANGES IN PITUITARY
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HOMOCYSTINURIA
DYSTONIA/ PARKINSONISM
PSYCHIATRIC SYMPTOMS
WIDE SPECTRUM
MARFANOID FEATURES
ECTOPIC LENS /MYOPIA
RX: PYRIDOXINE 100-300MG/DAY
FOLIC ACID 1-5MG/DAY
BETAIN AND RESTRICTION OF DIETARY METHIONINE
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CEREBELLUM
SCA14 (PRKCG)
CHILDHOOD TO LATE ADULTHOOD
COGNITION/ AXIAL MYOCLONUS
PARKINSONISM
HEARING LOSS (<10%)
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ATAXIA TELANGIECTASIA
TELENGIECTASIA
(EYES/ SUN EXPOSED AREAS)
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
HIGH RISK FOR MALIGNANCIES
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG LEVELS
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ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA
MACULAR ATROPHY
LAB: LOW SERUM VIT-E LEVELS