Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

Alternative Names

  • NADGP

Associated Genes

Sequestosome 1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other disorders of the nervous system

OMIM Number

617145

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q35.3

Description

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617145.1United Arab EmiratesMaleYesNo Autistic behavior; Delayed speech and la...NM_003900.4:c.311_312delHomozygousAutosomal, RecessiveSaleh et al. 2021 Family history of sp...
617145.2.1United Arab EmiratesFemaleYes Gait disturbance; Ataxia; Dystonia; Dysa...NM_003900.4:c.311_312delHomozygousAutosomal, RecessiveHaack et al. 2016 Patient from 'family...
617145.2.2United Arab EmiratesFemaleYes Gait disturbance; Ataxia; Dystonia; Dysa...NM_003900.4:c.311_312delHomozygousAutosomal, RecessiveHaack et al. 2016 Sister of 617145.2.1
617145.2.3United Arab EmiratesFemaleYes Gait disturbance; Ataxia; Dystonia; Dysa...NM_003900.4:c.311_312delHomozygousAutosomal, RecessiveHaack et al. 2016 Sister of 617145.2.1
617145.3.1SyriaFemaleYesYes Gait disturbance; Ataxia; Dysarthria; Ve...NM_003900.5:c.286C>THomozygousAutosomal, RecessiveHaack et al. 2016 Patient from 'family...
617145.3.2SyriaMaleYesYes Gait disturbance; Ataxia; Dysarthria; Ve...NM_003900.5:c.286C>THomozygousAutosomal, RecessiveHaack et al. 2016 Brother of 617145.3....
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