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GTR Home > Conditions/Phenotypes > Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Synonyms
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34

Summary

Autosomal recessive spinocerebellar ataxia-34 (SCAR34) is characterized by the onset of slowly progressive cerebellar ataxia in infancy or early childhood. Affected individuals show motor delay with delayed walking (around 5 to 6 years), unsteady wide-based gait, dysarthria, dysmetria, nystagmus, abnormal smooth pursuit, intention tremor, and dysdiadochokinesia. Some patients may also have hypotonia, spasticity, or other movement abnormalities. Almost all patients have impaired intellectual development with speech delay, although the severity is highly variable. Brain imaging shows cerebellar atrophy (summary by Kaiyrzhanov et al., 2024). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CA-RP, CA-VIII, CALS, CAMRQ3, CARP, SCAR34, CA8
    Summary: carbonic anhydrase 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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