Spinocerebellar Ataxia 18

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OMIM 57 607458 Disease Ontology 12 DOID:0050969 Orphanet 59 ORPHA98771 UMLS via Orphanet 74 C1843884 MESH via Orphanet 45 C537197

ICD10 via Orphanet 34 G11.8 MedGen 42 C1843884 SNOMED-CT via HPO 69 263681008 103276001 15188001 343087000 95828007 563001 8011004 405946002 95646004 349006 37280007 32566006 26544005 26079004 205091006 25136009 23133003 74035001 397974008 398026008 59073000 128208007 60703000 246586009 366575004 713514005 41405005 78691002 more UMLS 73 C1843884

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98771Disease definitionSpinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.EpidemiologyPrevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date.Clinical descriptionOnset is in the 2nd and 3rd decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later.EtiologySCA18 has been linked to chromosome 7q22-q23 but the responsible genemutation has not yet been identified. Both SCA3 and SCA4 are also associated with a peripheral neuropathy and should be taken into account in the differential diagnosis.PrognosisPrognosis is unclear. However, mean disease duration from age at onset of illness to age at last examination is about 24 years in the reported cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 18, also known as spinocerebellar ataxia type 18, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 18, and has symptoms including tremor and dysdiadochokinesis. An important gene associated with Spinocerebellar Ataxia 18 is IFRD1 (Interferon Related Developmental Regulator 1). Affiliated tissues include skeletal muscle, and related phenotypes are nystagmus and dysarthria

Description from OMIM: 607458

Clinical features from OMIM:

607458

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 18.