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GTR Home > Conditions/Phenotypes > Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Synonyms
SPINOCEREBELLAR ATAXIA 24; Spinocerebellar Ataxia with Saccadic Intrusions; Spinocerebellar ataxia 24 (formerly); Spinocerebellar ataxia autosomal recessive 4
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: VPS13D Movement Disorder
VPS13D movement disorder is a hyperkinetic movement disorder (dystonia, chorea, and/or ataxia) of variable age of onset that can be associated with developmental delay. Onset ranges from birth to adulthood. Individuals can present in childhood with motor delays and gait instability. Cognitive impairment ranging from mild intellectual disability to developmental delay has been reported, and several individuals have normal cognitive function. Individuals have also presented as young adults with gait difficulties caused by spastic ataxia or ataxia. In addition to gait ataxia, affected individuals had limb ataxia, dysarthria, and eye movement abnormalities (macro-saccadic oscillations, nystagmus, and saccadic pursuit). Additional features reported in some individuals include peripheral neuropathy and/or seizures. The disorder progresses to spastic ataxia or generalized dystonia, which can lead to loss of independent ambulation.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Inge A Meijer
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Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BLTP5D, SCA24, SCAR4, SCASI, VPS13D
    Summary: vacuolar protein sorting 13 homolog D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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