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GTR Home > Conditions/Phenotypes > Autosomal recessive juvenile Parkinson disease 2

Autosomal recessive juvenile Parkinson disease 2

Synonyms
Juvenile parkinsonism; Parkin Type of Early-Onset Parkinson Disease; Parkin Type of Juvenile Parkinson Disease; Parkinson disease 2; Parkinson disease autosomal recessive, early onset; Parkinson disease, juvenile, autosomal recessive; Parkinson disease, juvenile, type 2; Parkinsonism, early onset, with diurnal fluctuation

Summary

Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs. [from GeneReviews]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AR-JP, LPRS2, PARK2, PDJ, PRKN
    Summary: parkin RBR E3 ubiquitin protein ligase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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