Autosomal recessive spastic paraplegia type 32

Orpha code: 171622OMIM code: 611252

Definition

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

Disease data
Classification

Disease

Synonyms
SPG32
SPG32
ORPHA code
171622
OMIM code
611252
ICD10 code
G11.4
ICD11 code
8B44.01

No additional description.

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