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HEARING

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CORTICAL/ SUBCORTICAL

SUPERFICIAL SIDEROSIS

ATAXIA/ DEAFNESS

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CREUTZFELDT JACKOB DISEASE 

HYPERACUSIS/ TINNITUS/ VERTIGO

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COCKAYNE SYNDROME (ERCC6)

CHILDHOOD LEUKODYSTROPHY

ATAXIA/ SPASTICITY/ TREMOR

CATARACT/ PENDULAR NYSTAGMUS

EXOPHTHALMOS/ RETINAL DYSTROPHY

MRI: PUTAMEN/ DENTATE COTICAL CALCIFICATIONS

DYSMYELINATION​

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BASAL GANGLIA

CAPOS (ATP1A3)

CEREBELLAR ATAXIA/ AREFLEXIA/ PES CAVUS

OPTIC ATROPHY/ SENSORY NEURAL HEARING LOSS​

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CEREBELLUM/ TRACTS

AIFM1 MUTATIONS

CEREBELLAR ATAXIA/ NEUROPATHY

COGNITIVE ISSUES

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ADCADN (DNMT1 GENE)

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA

DEAFNESS AND NARCOLEPSY 

OPTIC ATROPHY/ CATARACT

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LICHTENSTEIN KNORR SYNDROME

SCAR19

AUTOSOMAL RECESSIVE ATAXIA

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SCA3 (ATXN3 CAG)

ATAXIA/ PARKINSONISM/DYSTONIA

CPEO/ BULGING EYES

SPASTICITY/ AMYOTROPHY

FACIAL LINGUAL ACTION INDUCED FASCICULATIONS

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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

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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

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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

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RIBOFLAVIN TRANSPORTER DEFICIENCY

ATAXIA/ NEUROPATHY

HEARING LOSS/ OPTIC ATROPHY

TONGUE FASCICULATIONS

MRI: BRAIN STEM T2 HYPERINTENSITY

RX: RIBOFLAVIN 10 MG BID

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HARNUP DISEASE (SLC6A19)

ATAXIA

PHOTOSENSITIVITY

PELLAGRA LIKE PRESENTATION

LAB: URINE TRYPTOPHAN INCREASED,

RX: NIACIN 250 MG BID

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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

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MITOCHONDRIAL

POLG1 MUTATION

ATAXIA/ NEUROPATHY

DEAFNESS

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KEARNS SAYRE SYNDROME

AGE OF ONSET <20YRS

RETINITIS PIGMENTOSA/ OPTIC ATROPHY

ATAXIA NEUROPATHY

SHORT STATURE/ DEAFNESS

DIABETES/ HYPOTHYROIDISM

LAB: CONDUCTION BLOCK/ CSF PROTEIN INCREASED

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HEREDITARY NEUROPATHY

CMT4 

CHILDHOOD

FRIEDREICH ATAXIA PHENOTYPE

ATAXIA/ DEMYELINATING POLYNEUROPATHY

THICKENED CRANIAL NERVES (5TH CN)

MYOKYMIA/ PES CAVUS/ SCOLIOSIS

HEARING LOSS (10%)

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VESTIBULAR

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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

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SCA3 (ATXN3 CAG)

ATAXIA/ PARKINSONISM/DYSTONIA

CPEO/ BULGING EYES

SPASTICITY/ AMYOTROPHY

FACIAL LINGUAL ACTION INDUCED FASCICULATIONS 

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WERNICKE

CONFUSION/ OPHTHALMOPARESIS

ATAXIA/UPBEAT NYSTAGMUS

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FRIEDREICH'S ATAXIA (FXN) 

ATAXIA/ DYSARTHRIA/ SCOLIOSIS

DIABETES (30%)

HEARING LOSS (20%)

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

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PARANEOPLASTIC

NEUROENDOCRINAL TUMORS

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