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Dystonia 10(EKD1)

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
Synonyms: EKD1; EPISODIC KINESIGENIC DYSKINESIA 1; Familial paroxysmal dystonia; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal kinesigenic choreoathetosis; Paroxysmal kinesigenic dyskinesia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Paroxysmal kinesigenic choreoathetosis (609221008); Paroxysmal kinesigenic dyskinesia (609221008)
 
Gene (location): PRRT2 (16p11.2)
OMIM®: 128200

Disease characteristics

Excerpted from the GeneReview: Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males.  [from GeneReviews]
Authors:
Sian Spacey  |  Paul Adams   view full author information

Additional descriptions

From OMIM
Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia See also EKD2 (611031), which maps to chromosome 16q13-q22.1.  http://www.omim.org/entry/128200
From GHR
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes.Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age.In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures called benign infantile convulsions. These seizures usually develop in the first year of life and stop by age 3. When benign infantile convulsions are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign infantile convulsions, some have only familial paroxysmal kinesigenic dyskinesia, and others develop both.  http://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia

Clinical features

Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
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.
Paroxysmal choreoathetosis
MedGen UID:
343687
Concept ID:
C1851936
Finding
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Abnormality of the face
MedGen UID:
871375
Concept ID:
C4025871
Anatomical Abnormality
An abnormality of the face.

Professional guidelines

PubMed

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602

Recent clinical studies

Etiology

Timerbaeva SL, Abramycheva NY, Rebrova OY, Illarioshkin SN
Int J Neurosci 2015;125(9):671-7. Epub 2014 Oct 2 doi: 10.3109/00207454.2014.962653. [Epub ahead of print] PMID: 25203860
Lee Y, Lin PY, Chang YY, Chong MY, Cheng AT
Pharmacopsychiatry 2013 Nov;46(7):281-5. Epub 2013 Sep 20 doi: 10.1055/s-0033-1354407. [Epub ahead of print] PMID: 24057776
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Mov Disord 2013 Jun;28(6):795-803. Epub 2013 Feb 15 doi: 10.1002/mds.25394. [Epub ahead of print] PMID: 23418071
Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370
Jankovic J, Leder S, Warner D, Schwartz K
Neurology 1991 Jul;41(7):1088-91. PMID: 2067638

Diagnosis

Furuya S, Nitsche MA, Paulus W, Altenmüller E
Ann Neurol 2014 May;75(5):700-7. Epub 2014 May 2 doi: 10.1002/ana.24151. [Epub ahead of print] PMID: 24706370
Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370
Shaw GY, Sechtem PR, Rideout B
Ann Otol Rhinol Laryngol 2003 Apr;112(4):303-6. PMID: 12731624
Scott BL
South Med J 2000 Aug;93(8):746-51. PMID: 10963502
Lee MS, Marsden CD
Mov Disord 1994 Sep;9(5):493-507. doi: 10.1002/mds.870090502. PMID: 7990845

Therapy

Lee Y, Lin PY, Chang YY, Chong MY, Cheng AT
Pharmacopsychiatry 2013 Nov;46(7):281-5. Epub 2013 Sep 20 doi: 10.1055/s-0033-1354407. [Epub ahead of print] PMID: 24057776
Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370
Scott BL
South Med J 2000 Aug;93(8):746-51. PMID: 10963502

Prognosis

Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370

Clinical prediction guides

Timerbaeva SL, Abramycheva NY, Rebrova OY, Illarioshkin SN
Int J Neurosci 2015;125(9):671-7. Epub 2014 Oct 2 doi: 10.3109/00207454.2014.962653. [Epub ahead of print] PMID: 25203860
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Mov Disord 2013 Jun;28(6):795-803. Epub 2013 Feb 15 doi: 10.1002/mds.25394. [Epub ahead of print] PMID: 23418071
Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370

Recent systematic reviews

Andrews C, Aviles-Olmos I, Hariz M, Foltynie T
J Neurol Neurosurg Psychiatry 2010 Dec;81(12):1383-9. Epub 2010 Sep 14 doi: 10.1136/jnnp.2010.207993. [Epub ahead of print] PMID: 20841370

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