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GTR Home > Conditions/Phenotypes > Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Synonyms
DYSTONIA 29, CHILDHOOD-ONSET

Summary

Excerpted from the GeneReview: MECR-Related Neurologic Disorder
MECR-related neurologic disorder is characterized by a progressive childhood-onset movement disorder and optic atrophy; intellect is often – but not always – preserved. The movement disorder typically presents between ages one and 6.5 years and is mainly dystonia that can be accompanied by chorea and/or ataxia. Over time some affected individuals require assistive devices for mobility. Speech fluency and intelligibility are progressively impaired due to dysarthria. Optic atrophy typically develops between ages four and 12 years and manifests as reduced visual acuity, which can include functional blindness (also known as legal blindness) in adulthood. Because only 13 affected individuals are known to the authors, and because nearly half of them were diagnosed retrospectively as adults, the natural history of disease progression and other aspects of the phenotype have not yet been completely defined.
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:
Gali Heimer
Allison Gregory
Penelope Hogarth
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Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16, MECR
    Summary: mitochondrial trans-2-enoyl-CoA reductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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