Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)

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Disease Ontology 12 DOID:0111645 OMIM 56 608105 MeSH 43 D019305 MESH via Orphanet 44 C535499 UMLS via Orphanet 72 C1842531

Orphanet 58 ORPHA163727 MedGen 41 C1842531 SNOMED-CT via HPO 68 127324008 17450006 230310003 258211005 26079004 52008007 8011004 81756001 more UMLS 71 C1842531

OMIM : ⁵⁶ Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019). (608105)

MalaCards based summary : Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp, also known as rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, is related to dystonia and benign epilepsy with centrotemporal spikes, and has symptoms including dystonia An important gene associated with Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp is TBC1D24 (TBC1 Domain Family Member 24). Related phenotypes are horizontal nystagmus and writer's cramp

Disease Ontology : ¹² An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has material basis in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.

UniProtKB/Swiss-Prot : ⁷³ Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp: An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand.

Clinical features from OMIM:

608105

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