ATAXIA-HEARING-VESTIBULAR

HEARING

CORTICAL/ SUBCORTICAL

SUPERFICIAL SIDEROSIS

ATAXIA/ DEAFNESS

CREUTZFELDT JACKOB DISEASE

HYPERACUSIS/ TINNITUS/ VERTIGO

COCKAYNE SYNDROME (ERCC6)

CHILDHOOD LEUKODYSTROPHY

ATAXIA/ SPASTICITY/ TREMOR

CATARACT/ PENDULAR NYSTAGMUS

EXOPHTHALMOS/ RETINAL DYSTROPHY

MRI: PUTAMEN/ DENTATE COTICAL CALCIFICATIONS

DYSMYELINATION

BASAL GANGLIA

CAPOS (ATP1A3)

CEREBELLAR ATAXIA/ AREFLEXIA/ PES CAVUS

OPTIC ATROPHY/ SENSORY NEURAL HEARING LOSS

CEREBELLUM/ TRACTS

AIFM1 MUTATIONS

CEREBELLAR ATAXIA/ NEUROPATHY

COGNITIVE ISSUES

ADCADN (DNMT1 GENE)

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA

DEAFNESS AND NARCOLEPSY

OPTIC ATROPHY/ CATARACT

LICHTENSTEIN KNORR SYNDROME

SCAR19

AUTOSOMAL RECESSIVE ATAXIA

SCA3 (ATXN3 CAG)

ATAXIA/ PARKINSONISM/DYSTONIA

CPEO/ BULGING EYES

SPASTICITY/ AMYOTROPHY

FACIAL LINGUAL ACTION INDUCED FASCICULATIONS

FRIEDREICH'S ATAXIA (FXN)

ATAXIA/ DYSARTHRIA/ SCOLIOSIS

DIABETES (30%)

HEARING LOSS (20%)

SENSORY GANGLIONOPATHY

HYPERTROPHIC CARDIOMYOPATHY ARRHYTHMIA/ CHF

LATE ONSET FRIEDREICH'S ATAXIA

(GAA REPEAT X25 GENE)

LOFA 25-40YRS/ VLOFA >40YRS

RETAINED REFLEXES/ SPASTICITY

MRI: CEREBELLAR ATROPHY LATE STAGES

SPINAL CORD ATROPHY

DENTATE IRON ACCUMULATION AND ATROPHY

VITAMIN RESPONSIVE DISORDERS

BIOTINIDASE DEF

LATE-ONSET FORM OF MULTIPLE

CARBOXYLASE DEFICIENCY

ATAXIA/ SEIZURES

SKIN RASH/ HAIR LOSS

DEAFNESS/ VISION PROBLEM

LAB: LACTIC ACID/ AMMONIA INCREASED

MRI: CEREBELLAR + CEREBRAL ATROPHY

RX: BIOTIN 5MG BID

MULTIPLE CARBOXYLASE DEFICIENCY

ATAXIA/ SEIZURES

SKIN RASH/ HAIR LOSS

DEAFNESS/ VISION PROBLEM

LAB: LACTIC ACID/ AMMONIA INCREASED

MRI: DIFFUSION RESTRICTION IN

CORTICOSPINAL TRACTS

RX: BIOTIN 5 MG BID

RIBOFLAVIN TRANSPORTER DEFICIENCY

ATAXIA/ NEUROPATHY

HEARING LOSS/ OPTIC ATROPHY

TONGUE FASCICULATIONS

MRI: BRAIN STEM T2 HYPERINTENSITY

RX: RIBOFLAVIN 10 MG BID

HARNUP DISEASE (SLC6A19)

ATAXIA

PHOTOSENSITIVITY

PELLAGRA LIKE PRESENTATION

LAB: URINE TRYPTOPHAN INCREASED,

RX: NIACIN 250 MG BID

PEROXISOMAL DISORDER

REFSUM (PHYN/PEX7)

ATAXIA/ DEAFNESS/ ANOSMIA

RETINITIS PIGMENTOSA

ICHTHYOSIS/ SENSORY NEUROPATHY

DEMYELINATING NEUROPATHY

PLASMA PHYTANIC ACID LEVELS RAISED

RX: AVOID PHYTANIC ACID

HIGH CALORIC DIET: PREVENT MOBILIZATION OF PHYTANIC ACID FOR ADIPOSE TISSUE

MITOCHONDRIAL

POLG1 MUTATION

ATAXIA/ NEUROPATHY

DEAFNESS

KEARNS SAYRE SYNDROME

AGE OF ONSET <20YRS

RETINITIS PIGMENTOSA/ OPTIC ATROPHY

ATAXIA NEUROPATHY

SHORT STATURE/ DEAFNESS

DIABETES/ HYPOTHYROIDISM

LAB: CONDUCTION BLOCK/ CSF PROTEIN INCREASED

HEREDITARY NEUROPATHY

CMT4

CHILDHOOD

FRIEDREICH ATAXIA PHENOTYPE

ATAXIA/ DEMYELINATING POLYNEUROPATHY

THICKENED CRANIAL NERVES (5TH CN)

MYOKYMIA/ PES CAVUS/ SCOLIOSIS

HEARING LOSS (10%)

VESTIBULAR

CANVAS (RFC1-AAGGG)

AGE OF ONSET < 50YRS

CEREBELLAR/ VESTIBULAR/ SENSORY ATAXIA

ABNORMAL VVOR AND PURSUIT

ABNORMAL VVOR

HEAD MOVED AT 0.5HZ WITH VISION FIXED AT EARTH FIXED TARGET. SACCADIC EYE MOVEMENTS SEEN AS VESTIBULAR AND PURSUIT BOTH ARE ABNORMAL

SENSORY MOTOR NEUROPATHY

GANGLIONOPATHY

COUGH/AUTONOMIC DYSFUNCTION