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  3. SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy; Spax8

Table of contents:

Description

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Genes related to Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy; Spax8

  • NKX6-2

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Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy; Spax8

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

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Sources and references

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OMIM Rare Disease Search Engine

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