Autosomal Recessive Spastic Paraplegia Type 32

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 32

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Intellectual disability, mild
  • Cerebral atrophy
  • Babinski sign
  • Pes cavus

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 in Europe.
No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Spastic Paraplegia Type 32 Is also known as spg32.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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