SCA38
MCID: SPN284
MIFTS: 31
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Spinocerebellar Ataxia 38 (SCA38)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 38:
Characteristics:Orphanet epidemiological data:59
spinocerebellar ataxia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive onset between 34 and 51 years of age HPO:32
spinocerebellar ataxia 38:
Onset and clinical course slow progression Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Spinocerebellar ataxia 38: 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. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
MalaCards based summary : Spinocerebellar Ataxia 38, also known as sca38, is related to autosomal dominant cerebellar ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 38 is ELOVL5 (ELOVL Fatty Acid Elongase 5). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are nystagmus and dysarthria OMIM : 57 Spinocerebellar ataxia-38 is an autosomal dominant neurologic disorder characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy (summary by Di Gregorio et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615957) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615957Human phenotypes related to Spinocerebellar Ataxia 38:59 32 (show all 13)
UMLS symptoms related to Spinocerebellar Ataxia 38:gait ataxia, cerebellar ataxia |
Drugs for Spinocerebellar Ataxia 38 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 38:41
Brain,
Eye,
Spinal Cord,
Cerebellum,
Skin,
Liver
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Articles related to Spinocerebellar Ataxia 38:
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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 38:75
ClinVar genetic disease variations for Spinocerebellar Ataxia 38:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 38.
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