CORTICAL/ SUBCORTICAL

ELAC2 MUTATION

CHILDHOOD/ RARELY ADULT ONSET

DELAYED PSYCHOMOTOR DEVELOPMENT

MITOCHONDRIAL DISORDER

CHOREA/ DYSTONIA

BILATERAL HEARING LOSS

HYPERTROPHIC CARDIOMYOPATHY

LAB: ACANTHOCYTES

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BASAL GANGLIA

WOODHOUSE SAKATI SYNDROME (DCAF17)

SPECTRUM:

RAPIDLY DISABLING TO MILD SYMPTOMS

COGNITIVE DECLINE

DEAFNESS/ DYSTONIA

PARKINSONISM/ ATAXIA

ALOPECIA./ DIABETES/ HYPOGONADISM

TRIANGULAR FACE/ HYPERTELORISM

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METHYLMALONIC ACIDURIA 

SEIZURES/ DYSTONIA/ ATAXIA

DEAFNESS/ PYRAMIDAL SIGNS

MRI: BILATERAL GP CYSTIC CHANGES

CEREBRAL ATROPHY

POSTERIOR PERIVENTRICULAR REGION HYPERINTENSITY

RX: VIT B12/ L-CARNITINE SUPPLEMENTATION

LOW PROTEIN DIET

COMBINED LIVER KIDNEY TRANSPLANT

DBS

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KMT2B

MEAN AGE OF ONSET 7 YRS

LOWER LIMB ONSET/ GENERALIZED

PROMINENT OMD AND CERVICAL DYSTONIA/OPHISTOTONUS

MENTAL RETARDATION

SENSORINEURAL HEARING LOSS

ELONGATED FACE/ BULBOUS NASAL TIP

MISSENSE VARIANT—LATE PRESENTATION

RX: DBS USEFUL

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MOHR-TRANEBJAERG SYNDROME (DDON)

(TIMM8A)

X-LINK RECESSIVE

DYSTONIA/ DEAFNESS

OPTIC NEUROPATHY

DYSTONIA IN JUVENILE AGE

OPTIC ATROPHY IS EARLY ADULTHOOD

DEMENTIA IN LATE ADULTHOOD

PSYCHIATRIC SYMTPOMS

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KERNICTERUS 

DYSTONIA/ CHOREOATHETOSIS

DEAFNESS/ UPGAZE RESTRICTION

DENTAL ENAMEL DYSPLASIA

MRI: HYPERINTENSITY (T1)

GLOBUS PALLIDUS (EARLY STAGE)

HYPERINTENSITY (T2)

GLOBUS PALLIDUS (LATE STAGE)

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