SYNE1-AS1 gene related symptoms and diseases

All the information presented here about the SYNE1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SYNE1-AS1 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Abnormality of extrapyramidal motor function Very Common - Between 80% and 100% cases
Spastic ataxia Very Common - Between 80% and 100% cases
Tongue fasciculations Very Common - Between 80% and 100% cases
Difficulty running Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SYNE1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Atrophy/Degeneration affecting the brainstem
  • Impaired vibratory sensation
  • Fasciculations
  • Limb ataxia
  • Dysmetria
  • Nystagmus
  • Limb muscle weakness
  • Gait ataxia

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SYNE1-AS1 gene

Here you will find a list of rare diseases related to the SYNE1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE

Alternate names

AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE Is also known as cerebellar ataxia, autosomal recessive, type 1, ataxia, recessive, of beauce, autosomal recessive cerebellar ataxia type 1, scar8, arca1

Description

Autosomal recessive ataxia, Beauce type is characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

Most common symptoms of AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


More info about AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE

SOURCES: ORPHANET OMIM



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