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
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