
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
​
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
CPEO/ BULGING EYES
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
​
WERNICKE
CONFUSION/ OPHTHALMOPARESIS
ATAXIA/UPBEAT NYSTAGMUS
​​
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
​
PARANEOPLASTIC
NEUROENDOCRINAL TUMORS
​
