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Huntington disease-like 2

Summary

Excerpted from the GeneReview: Huntington Disease-Like 2
Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities which lead to death within ten to 20 years. HDL2 cannot be differentiated from Huntington disease clinically. Neurologic abnormalities include chorea, hypokinesia (rigidity, bradykinesia), dysarthria, and hyperreflexia in the later stages of the disease. There is a strong correlation between the duration of the disease and the progression of the motor and cognitive disorder.
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:
David G Anderson
Amanda Krause
Russell L Margolis
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Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAGL237, HDL2, JP-3, JP3, TNRC22, JPH3
    Summary: junctophilin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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