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  3. SPG32

SPG32 gene related symptoms and diseases

All the information presented here about the SPG32 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SPG32 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Difficulty walking Very Common - Between 80% and 100% cases
Ankle clonus Very Common - Between 80% and 100% cases
Lower limb hyperreflexia Very Common - Between 80% and 100% cases
Spastic gait Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG32 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Lower limb muscle weakness
  • Paraplegia
  • Spastic paraplegia
  • Pes cavus
  • Spasticity
  • Babinski sign
  • Cerebral atrophy
  • Intellectual disability, mild

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG32 gene

Here you will find a list of rare diseases related to the SPG32. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 Is also known as spg32

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.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

SOURCES: MESH ORPHANET OMIM



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