Spinocerebellar Ataxia 2 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Mental diseases, Eye diseases, Metabolic diseases, Ear diseases, Skin diseases
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Aliases & Descriptions for Spinocerebellar Ataxia 2:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth
spinocerebellar ataxia type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages
Penetrance: see establishing the diagnosis, allele sizes and genotype-phenotype correlations...
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Mental diseases, Eye diseases, Ear diseases, Skin diseases
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Amyotrophic lateral sclerosis 13: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Spinocerebellar ataxia 2: Spinocerebellar ataxia is 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs.
MalaCards based summary: Spinocerebellar Ataxia 2, also known as spinocerebellar ataxia type 2, is related to spinocerebellar ataxia 7 and olivopontocerebellar atrophy deafness, and has symptoms including multicystic kidney dysplasia, oral cleft and oligohydramnios. An important gene associated with Spinocerebellar Ataxia 2 is ATXN2 (Ataxin 2), and among its related pathways are Parkinsons Disease Pathway and Calcium signaling pathway. Affiliated tissues include eye, brain and cerebellum, and related mouse phenotypes are behavior/neurological and mortality/aging.
Disease Ontology:11 A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has material basis in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Genetics Home Reference:25 Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to a decreased ability to make rapid eye movements (saccadic slowing).
NIH Rare Diseases:47 Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner. Last updated: 6/23/2014
OMIM:51 Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by... (183090) more...
NINDS:48 Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain ? the cerebellum, pons, and inferior olives.
GeneReviews for NBK1275
Human phenotypes related to Spinocerebellar Ataxia 2:63 53 (show all 41)
UMLS symptoms related to Spinocerebellar Ataxia 2:cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, ophthalmoplegia, bradykinesia, dysdiadochokinesis
Drugs for Spinocerebellar Ataxia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 655)
Interventional clinical trials:(show top 50) (show all 603)
Search NIH Clinical Center for Spinocerebellar Ataxia 2
MalaCards organs/tissues related to Spinocerebellar Ataxia 2:35
Eye, Brain, Cerebellum, Lung, Testes, Pons, Heart
MGI Mouse Phenotypes related to Spinocerebellar Ataxia 2:40
Articles related to Spinocerebellar Ataxia 2:(show all 21)
Search GEO for disease gene expression data for Spinocerebellar Ataxia 2.
Pathways related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:
Cellular components related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:
Molecular functions related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet