Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures

Alternative Names

  • CONDSIAS
Back to search Result
WHO-ICD-10 version:2010
OMIM Number

618170

Gene Map Locus

1p34.3

Description

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618170.1.1United Arab EmiratesMaleYesYes Neurological speech impairment; Motor re... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Patient from 'family...
618170.1.2United Arab EmiratesFemaleYesYes Delayed speech and language development;... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Sister of 618170.1.1
618170.1.3United Arab EmiratesMaleYesYes Neurological speech impairment; Motor re... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Brother of 618170.1....
618170.1.4United Arab EmiratesMaleYesYes Neurological speech impairment; Motor re... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Brother of 618170.1....
618170.1.5United Arab EmiratesMaleYesYes Delayed speech and language development;... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Brother of 618170.1....
618170.1.6United Arab EmiratesFemaleYesYes Motor regression; Seizure; Death in chil... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Cousin of 618170.1.1
618170.1.7United Arab EmiratesFemaleYesYes Seizure; Death in childhood... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Cousin of 618170.1.1
618170.1.8United Arab EmiratesMaleYesYes Neurological speech impairment; Motor re... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Cousin of 618170.1.1
618170.1.9United Arab EmiratesFemaleYesYes Neurological speech impairment; Motor re... NM_017825.3:c.1000C>THomozygousAutosomal, RecessiveGhosh et al. 2018 Cousin of 618170.1.1
© CAGS 2021. All rights reserved.