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Unverricht-Lundborg syndrome

Synonyms
EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg); Epilepsy, progressive myoclonic type 1; Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Myoclonus progressive epilepsy of Unverricht and Lundborg; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Progressive Myoclonic Epilepsy Type 1
Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling.
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:
Anna-Elina Lehesjoki
Reetta Kälviäinen
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Available tests

49 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD, CSTB
    Summary: cystatin B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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