Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome(EPRPDC)

MedGen UID:: 334104
•Concept ID:: C1842531
•: Disease or Syndrome

Synonyms:	Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp; RE-PED-WC; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
SNOMED CT:	Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (1231737000)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TBC1D24 (16p13.3)

Monarch Initiative:	MONDO:0011970
OMIM®:	608105
Orphanet:	ORPHA163727

Definition

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). [from OMIM]

Clinical features

From HPO

Dysarthria

MedGen UID:: 8510
•Concept ID:: C0013362
•: Mental or Behavioral Dysfunction

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

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Focal motor seizure

MedGen UID:: 5237
•Concept ID:: C0016399
•: Disease or Syndrome

A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.

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Myoclonus

MedGen UID:: 10234
•Concept ID:: C0027066
•: Finding

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.

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Writer cramp

MedGen UID:: 57821
•Concept ID:: C0154676
•: Disease or Syndrome

A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.

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Hand tremor

MedGen UID:: 68689
•Concept ID:: C0239842
•: Finding

An unintentional, oscillating to-and-fro muscle movement affecting the hand.

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Paroxysmal dystonia

MedGen UID:: 97951
•Concept ID:: C0393588
•: Sign or Symptom

A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.

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Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Focal hemifacial clonic seizure