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Start free with EleplanIFIH1-related hereditary spastic paraplegia
ORPHA:689231Disease
Also called Interferon induced with helicase C domain 1-related hereditary spastic paraplegia
What it is
A rare pure hereditary spastic paraplegia characterized by spastic paraparesis and normal neuroimaging (no leukodystrophy or calcification in the brain). It is a slowly progressing disease in which patients present with varying degrees of toe-walking, frequent falls and a spastic gait, as well as increased tone or obvious spastic paralysis, weakness, and hyperreflexia of the lower limbs. Additional clinical features may include gross hematuria, fibrillation and atrophy of the tongue muscles, and upper limb involvement such as bilateral upper extremity weakness, hypotonia, and atrophy of the interosseous and thenar muscles in the hands. Chilblain lesions and intellectual disability are absent.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Ireland)Autosomal dominant pure spastic paraplegia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
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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