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Start free with EleplanLethal ataxia with deafness and optic atrophy
ORPHA:1187Disease
Also called Arts syndrome · Lethal ataxia with hearing loss and optic atrophy
What it is
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
14- Abnormal erythrocyte enzyme activity
- Abnormality of somatosensory evoked potentials
- Blindness
- Congenital sensorineural hearing impairment
- Decreased motor nerve conduction velocity
- EMG: chronic denervation signs
- Muscle weakness
- Mutism
- Optic atrophy
- Recurrent infections
- Recurrent upper respiratory tract infections
- Severe demyelination of the white matter
- Severe infection
- Visual impairment
Common30–79%
16- Appendicular hypotonia
- Areflexia
- Ataxia
- Axial hypotonia
- EEG with focal epileptiform discharges
- Hypouricemia
- Intellectual disability, mild
- Intellectual disability, moderate
- Motor delay
- Neck muscle weakness
- Nystagmus
- Peripheral neuropathy
- Profound sensorineural hearing impairment
- Respiratory failure requiring assisted ventilation
- Spinal cord posterior columns myelin loss
- Tetraplegia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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