SCA31
MCID: SPN103
MIFTS: 39
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Spinocerebellar Ataxia 31 (SCA31)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 31:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 31
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
late adult onset (after age 55 years) earlier onset is rare HPO:31
spinocerebellar ataxia 31:
Inheritance autosomal dominant inheritance Onset and clinical course late onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus , and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Epidemiology Spinocerebellar ataxia type 31 (SCA31) is the third most common form of ADCA in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries. Clinical description The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31, and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, hearing difficulties, and blepharospasm Etiology SCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1. Diagnostic methods Diagnosis is based on the characteristic clinical findings and molecular genetic testing . As the manifestations of SCA31 are not specific, diagnosis is only confirmed with the finding of a mutation in the BEAN1 gene Differential diagnosis Differential diagnosis includes other types of ADCA. Genetic counseling SCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring. Management and treatment There is no cure for SCA31 and treatment is supportive. Physical therapy , as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression. Prognosis Disease progression is very slow. Life expectancy is not reduced but the quality of life can be significantly affected. According to recent reports, patients can become wheelchair bound at age of 79 years, and died at age of 89 years. Visit the Orphanet disease page for more resources.
MalaCards based summary : Spinocerebellar Ataxia 31, also known as spinocerebellar ataxia type 31, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 4, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 31 is BEAN1 (Brain Expressed Associated With NEDD4 1), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are dysarthria and gait ataxia Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has material basis in repeat expansion mutation in the BEAN1 gene. UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 31: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. |
Human phenotypes related to Spinocerebellar Ataxia 31:58 31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:117210UMLS symptoms related to Spinocerebellar Ataxia 31:gait ataxia GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Spinocerebellar Ataxia 31:40
Cerebellum,
Eye,
Spinal Cord,
Testes
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Articles related to Spinocerebellar Ataxia 31:(show all 46)
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ClinVar genetic disease variations for Spinocerebellar Ataxia 31:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 31.
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Cellular components related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:
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