Spinocerebellar Ataxia 18 (SCA18)

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Disease Ontology 12 DOID:0050969 OMIM 56 607458 OMIM Phenotypic Series 56 PS164400 MESH via Orphanet 44 C537197 ICD10 via Orphanet 33 G11.8

UMLS via Orphanet 72 C1843884 Orphanet 58 ORPHA98771 MedGen 41 C1843884 SNOMED-CT via HPO 68 103276001 128208007 15188001 205091006 23133003 246586009 25136009 26079004 263681008 26544005 32566006 343087000 349006 366575004 37280007 397974008 398026008 405946002 41405005 563001 59073000 60703000 713514005 74035001 78691002 8011004 95646004 95828007 more UMLS 71 C1843884

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98771 Definition Spinocerebellar 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. Epidemiology Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Clinical description Onset 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. Etiology SCA18 has been linked to chromosome 7q22-q23 but the responsible gene mutation 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 . Prognosis Prognosis 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 recessive cerebellar ataxia and hereditary ataxia, 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 muscle weakness and areflexia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has material basis in mutation on chromosome 7q22-q23.

More information from OMIM: 607458 PS164400

Clinical features from OMIM:

607458

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 18

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