Autosomal recessive spastic paraplegia type 15

Orpha code: 100996OMIM code: 270700

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.

Disease data
Classification

Disease

Synonyms
Hereditary spastic paraparesis type 15
Dziedziczna parapareza spastyczna typu 15
Paraplegia spastyczna - zwyrodnienie rogówki
SPG15
Zespół Kjellina
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
ORPHA code
100996
OMIM code
270700
ICD10 code
G11.4
ICD11 code
-

No additional description.

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