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Start free with EleplanAutosomal recessive ataxia due to PEX16 deficiency
ORPHA:642954Disease
Also called Mild peroxisomal disorder due to PEX16 deficiency
What it is
A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases).
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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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