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Spinocerebellar ataxia type 28

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 28
Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.
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:
Alessandro Brussino
Alfredo Brusco
Alexandra Durr
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Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OPA12, SCA28, SPAX5, AFG3L2
    Summary: AFG3 like matrix AAA peptidase subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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