X-linked Spastic Paraplegia Type 16

Description

Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Spastic Paraplegia Type 16

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Visual impairment
  • Motor delay
  • Hyperreflexia
  • Optic atrophy
  • Intellectual disability, mild

And another 24 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 X-LINKED SPASTIC PARAPLEGIA TYPE 16 in Europe.
No data available about the known clinical features onset.

Alternative names

X-linked Spastic Paraplegia Type 16 Is also known as spg16.

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.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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