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Autosomal recessive spastic paraplegia type 15
Disease definition
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
ORPHA:100996
Classification level: Disorder- Synonym(s):
- Hereditary spastic paraparesis type 15
- Kjellin syndrome
- SPG15
- Spastic paraplegia-retinal degeneration syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Adolescent, Adult
- ICD-10: G11.4
- OMIM: 270700
- UMLS: C1849128
- MeSH: C536642
- GARD: 9581
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
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Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.