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

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 ).

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.

Click here to know more about Mendelian.

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

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 Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1 AMELOGENESIS IMPERFECTA, TYPE IIIA; AI3A AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 PSEUDO-TORCH SYNDROME 1; PTORCH1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14