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Paroxysmal choreoathetosis(PNKD1)

MedGen UID:
401504
Concept ID:
C1869117
Disease or Syndrome
Synonyms: Dystonia 8; Familial paroxysmal choreoathetosis; Familial Paroxysmal Nonkinesigenic Dyskinesia; Mount-Reback syndrome; Nonkinesigenic choreoathetosis; Paroxysmal dystonic choreoathetosis; Paroxysmal nonkinesigenic dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
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: Mount-Reback syndrome (609218006); Paroxysmal dystonic choreoathetosis (609218006); Paroxysmal nonkinesigenic dyskinesia (609218006); Familial paroxysmal choreoathetosis (609218006); Paroxysmal choreoathetosis (49949003)
 
Gene (location): PNKD (2q35)
OMIM®: 118800
Orphanet: ORPHA98810

Disease characteristics

Excerpted from the GeneReview: Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia (referred to as familial PNKD in this entry) is characterized by unilateral or bilateral involuntary movements; attacks are spontaneous or precipitated by alcohol, coffee or tea, excitement, stress, fatigue, or chocolate. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens, but can be as late as age 50 years. [from GeneReviews]
Authors:
Sian Spacey  |  Paul Adams   view full author information

Additional description

From GHR
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that develop without a known cause or are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesias can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). Dyskinesias also affect muscles in the trunk and face. The type of abnormal movement varies among affected individuals, even among members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any other neurological symptoms between episodes.Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1-4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.  http://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia

Clinical features

Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
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.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
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.
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)
Paroxysmal choreoathetosis
MedGen UID:
343687
Concept ID:
C1851936
Finding
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
Facial grimacing
MedGen UID:
65891
Concept ID:
C0234853
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal choreoathetosis
Follow this link to review classifications for Paroxysmal choreoathetosis in Orphanet.

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

Waln O, Jankovic J
Neurol Clin 2015 Feb;33(1):137-52. doi: 10.1016/j.ncl.2014.09.014. PMID: 25432727
Zhang LM, An Y, Pan G, Ding YF, Zhou YF, Yao YH, Wu BL, Zhou SZ
J Child Neurol 2015 Sep;30(10):1263-9. Epub 2014 Nov 17 doi: 10.1177/0883073814556887. [Epub ahead of print] PMID: 25403460
Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. [Epub ahead of print] PMID: 24370076Free PMC Article
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H
Neurology 2011 Sep 6;77(10):959-64. Epub 2011 Aug 10 doi: 10.1212/WNL.0b013e31822e0479. [Epub ahead of print] PMID: 21832227
Nardocci N, Lamperti E, Rumi V, Angelini L
Dev Med Child Neurol 1989 Oct;31(5):670-4. PMID: 2806747

Diagnosis

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. [Epub ahead of print] PMID: 24370076Free PMC Article
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H
Neurology 2011 Sep 6;77(10):959-64. Epub 2011 Aug 10 doi: 10.1212/WNL.0b013e31822e0479. [Epub ahead of print] PMID: 21832227
Nardocci N, Lamperti E, Rumi V, Angelini L
Dev Med Child Neurol 1989 Oct;31(5):670-4. PMID: 2806747
Przuntek H, Monninger P
J Neurol 1983;230(3):163-9. PMID: 6197511
Kinast M, Erenberg G, Rothner AD
Pediatrics 1980 Jan;65(1):74-7. PMID: 7355039

Therapy

Wang BJ, Chang YC
Ther Drug Monit 1985;7(1):81-2. PMID: 3887671
Przuntek H, Monninger P
J Neurol 1983;230(3):163-9. PMID: 6197511
Kinast M, Erenberg G, Rothner AD
Pediatrics 1980 Jan;65(1):74-7. PMID: 7355039
Robin JJ
Ann Neurol 1977 Nov;2(5):447-8. doi: 10.1002/ana.410020520. PMID: 617585
Jung SS, Chen KM, Brody JA
Neurology 1973 Jul;23(7):749-55. PMID: 4268204

Prognosis

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. [Epub ahead of print] PMID: 24370076Free PMC Article
Heron SE, Dibbens LM
J Med Genet 2013 Mar;50(3):133-9. Epub 2013 Jan 23 doi: 10.1136/jmedgenet-2012-101406. [Epub ahead of print] PMID: 23343561
Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y
Epilepsy Res 2006 Aug;70 Suppl 1:S174-84. Epub 2006 Aug 9 doi: 10.1016/j.eplepsyres.2006.02.009. [Epub ahead of print] PMID: 16901678
Nardocci N, Lamperti E, Rumi V, Angelini L
Dev Med Child Neurol 1989 Oct;31(5):670-4. PMID: 2806747
Kinast M, Erenberg G, Rothner AD
Pediatrics 1980 Jan;65(1):74-7. PMID: 7355039

Clinical prediction guides

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. [Epub ahead of print] PMID: 24370076Free PMC Article
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H
Neurology 2011 Sep 6;77(10):959-64. Epub 2011 Aug 10 doi: 10.1212/WNL.0b013e31822e0479. [Epub ahead of print] PMID: 21832227
Thiriaux A, de St Martin A, Vercueil L, Battaglia F, Armspach JP, Hirsch E, Marescaux C, Namer IJ
Mov Disord 2002 Jan;17(1):98-104. PMID: 11835445
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP
Am J Hum Genet 1997 Oct;61(4):889-98. doi: 10.1086/514877. PMID: 9382100Free PMC Article
Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T
Genomics 1996 Jan 1;31(1):90-4. doi: 10.1006/geno.1996.0013. PMID: 8808284

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