PDC
MCID: FML186
MIFTS: 35

Familial Paroxysmal Nonkinesigenic Dyskinesia (PDC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards integrated aliases for Familial Paroxysmal Nonkinesigenic Dyskinesia:

Name: Familial Paroxysmal Nonkinesigenic Dyskinesia 24 25
Paroxysmal Non-Kinesigenic Dyskinesia 59 29 6
Paroxysmal Nonkinesigenic Dyskinesia 24 25 72
Paroxysmal Dystonic Choreoathetosis 24 25
Pnkd 24 25
Paroxystic Non-Kinesigenic Choreoathetosis 59
Dyskinesia, Nonkinesigenic, Paroxysmal 40
Familial Paroxysmal Choreoathetosis 25
Nonkinesigenic Choreoathetosis 25
Mount-Reback Syndrome 25
Pdc 25

Characteristics:

Orphanet epidemiological data:

59
paroxysmal non-kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

GeneReviews:

24
Penetrance Bruno et al [2007] calculated the penetrance of familial pnkd in individuals with pnkd pathogenic variants to be 98%; the asymptomatic individual in the study was too young to be considered unaffected.

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 C537181
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 73 C1869117
Orphanet 59 ORPHA98810
UMLS 72 C1869117

Summaries for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetics Home Reference : 25 Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes 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 are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. 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 dyskinesia 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). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any 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 to 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.

MalaCards based summary : Familial Paroxysmal Nonkinesigenic Dyskinesia, also known as paroxysmal non-kinesigenic dyskinesia, is related to episodic kinesigenic dyskinesia 2 and dystonia, dopa-responsive, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Familial Paroxysmal Nonkinesigenic Dyskinesia is PNKD (PNKD Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include globus pallidus, spinal cord and b cells, and related phenotypes are paroxysmal dyskinesia and choreoathetosis

GeneReviews: NBK1221

Related Diseases for Familial Paroxysmal Nonkinesigenic Dyskinesia

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2

Diseases related to Familial Paroxysmal Nonkinesigenic Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 2 31.3 PRRT2 PNKD
2 dystonia, dopa-responsive 31.0 PRRT2 PNKD
3 benign epilepsy with centrotemporal spikes 30.6 PRRT2 PNKD
4 paroxysmal choreoathetosis 30.3 PRRT2 PNKD
5 choreatic disease 29.9 PRRT2 PNKD
6 dystonia 29.8 PRRT2 PNKD
7 episodic kinesigenic dyskinesia 1 29.7 PRRT2 PNKD
8 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.9
9 paroxysmal nonkinesigenic dyskinesia 2 12.8
10 pyruvate dehydrogenase e1-alpha deficiency 12.3
11 retinitis pigmentosa 11.8
12 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.8
13 usher syndrome 11.7
14 convulsions, familial infantile, with paroxysmal choreoathetosis 11.7
15 tic disorder 11.6
16 amyotrophic lateral sclerosis 1 11.6
17 paroxysomal nonkinesigenic dyskinesia 11.6
18 dihydrolipoamide dehydrogenase deficiency 11.4
19 episodic ataxia, type 2 11.2
20 episodic ataxia, type 1 11.2
21 halothane hepatitis 11.2
22 dystonia 3, torsion, x-linked 11.2
23 multiple congenital anomalies-hypotonia-seizures syndrome 1 11.2
24 dyskinetic cerebral palsy 11.2
25 multifocal dystonia 11.2
26 hemidystonia 11.2
27 benign familial infantile epilepsy 11.2
28 multiple congenital anomalies-hypotonia-seizures syndrome 11.2
29 respiratory allergy 11.2
30 timothy grass allergy 11.2
31 peach allergy 11.2
32 tomato allergy 11.2
33 nasal cavity disease 11.2
34 migraine with or without aura 1 11.1
35 lateral sclerosis 10.6
36 hypoparathyroidism 10.5
37 chorea, childhood-onset, with psychomotor retardation 10.4
38 hereditary dystonia 10.4
39 autoimmune disease 10.4
40 ataxia and polyneuropathy, adult-onset 10.4
41 insulinoma 10.4
42 hypoglycemia 10.4
43 alzheimer disease 10.3
44 breast cancer 10.3
45 primary hyperparathyroidism 10.3
46 hyperparathyroidism 10.3
47 athetosis 10.3
48 tremor 10.3
49 rare hyperkinetic movement disorder 10.3
50 rare surgical neurologic disease 10.3

Graphical network of the top 20 diseases related to Familial Paroxysmal Nonkinesigenic Dyskinesia:



Diseases related to Familial Paroxysmal Nonkinesigenic Dyskinesia

Symptoms & Phenotypes for Familial Paroxysmal Nonkinesigenic Dyskinesia

Human phenotypes related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007166
2 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
3 hyperkinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002487
4 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
5 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
6 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
7 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
8 generalized muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003324
9 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
10 trismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000211
11 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
12 staring gaze 59 32 occasional (7.5%) Occasional (29-5%) HP:0025401
13 chorea 59 Frequent (79-30%)
14 dystonia 59 Very frequent (99-80%)
15 involuntary movements 59 Frequent (79-30%)

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


torticollis, myokymia, dystonia, paroxysmal

Drugs & Therapeutics for Familial Paroxysmal Nonkinesigenic Dyskinesia

Search Clinical Trials , NIH Clinical Center for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetic Tests for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetic tests related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

# Genetic test Affiliating Genes
1 Paroxysmal Non-Kinesigenic Dyskinesia 29

Anatomical Context for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards organs/tissues related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

41
Globus Pallidus, Spinal Cord, B Cells

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show top 50) (show all 55)
# Title Authors PMID Year
1
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. 38 4 71
15496428 2004
2
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. 4 71
16216955 2005
3
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. 4 71
15262732 2004
4
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 38 71
19124534 2009
5
Familial Paroxysmal Nonkinesigenic Dyskinesia 38 71
20301400 2005
6
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 38 4
26598494 2015
7
Fatal paroxysmal non-kinesigenic dyskinesia. 38 4
25572910 2015
8
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 38 4
22967746 2012
9
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families. 38 4
21962874 2012
10
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. 38 4
21487022 2011
11
EFNS guidelines on diagnosis and treatment of primary dystonias. 71
20482602 2011
12
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. 71
15824259 2005
13
Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome. 38 4
15390045 2005
14
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. 71
9490305 1998
15
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. 71
8659518 1996
16
Unravelling of the paroxysmal dyskinesias. 4
30242089 2019
17
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. 4
28090678 2017
18
Timing, rates and spectra of human germline mutation. 4
26656846 2016
19
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 4
25730884 2015
20
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 4
24963779 2014
21
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 4
19589464 2009
22
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 4
17515540 2007
23
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. 4
16972263 2006
24
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. 4
15629959 2005
25
Familial (idiopathic) paroxysmal dyskinesias: an update. 4
11346027 2001
26
The paroxysmal dyskinesias. 4
10323309 1999
27
Gabapentin for familial paroxysmal dystonic choreoathetosis. 4
9371936 1997
28
Paroxysmal dyskinesias: clinical features and classification. 4
7574453 1995
29
RSM22, mtYsxC and PNKD-like proteins are required for mitochondrial translation in Trypanosoma brucei. 38
28089944 2017
30
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. 38
27891564 2017
31
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. 38
27005424 2016
32
Paroxysmal non-kinesigenic dyskinesia, post-streptococcal syndromes and psychogenic movement disorders: a diagnostic challenge. 38
25795754 2015
33
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 38
25107857 2015
34
Re-evaluation of PRRT2 mutations in paroxysmal disorders. 38
24609974 2014
35
Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves' disease. 38
24347956 2013
36
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. 38
22902309 2013
37
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 38
22515636 2012
38
Paroxysmal non-kinesigenic dyskinesia due to spinal cord infiltration of low-grade B cell non-Hodgkin's lymphoma. 38
21626000 2012
39
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. 38
21600715 2012
40
Extrapyramidal epilepsy. 38
21561840 2011
41
The paroxysmal dyskinesias. 38
19289562 2009
42
Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. 38
18948699 2009
43
Effects of the kynurenine 3-hydroxylase inhibitor Ro 61-8048 after intrastriatal injections on the severity of dystonia in the dt sz mutant. 38
18353306 2008
44
Fahr's disease presenting with paroxysmal non-kinesigenic dyskinesia: a case report. 38
17240186 2008
45
Sporadic paroxysmal non-kinesigenic dyskinesia: a frequently-misdiagnosed movement disorder. 38
17728953 2007
46
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. 38
16267844 2006
47
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. 38
15165643 2004
48
Moyamoya-induced paroxysmal dyskinesia. 38
14502675 2003
49
Paroxysmal dyskinesias in childhood. 38
12770667 2003
50
Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. 38
12571782 2002

Variations for Familial Paroxysmal Nonkinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Nonkinesigenic Dyskinesia:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PNKD NM_015488.5(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 2:219204600-219204600 2:218339877-218339877
2 PNKD NM_015488.5(PNKD): c.37C> T (p.Arg13Trp) single nucleotide variant Uncertain significance rs886055619 2:219135295-219135295 2:218270572-218270572
3 PNKD NM_015488.5(PNKD): c.466-3C> A single nucleotide variant Uncertain significance rs370929830 2:219205448-219205448 2:218340725-218340725
4 PNKD NM_015488.5(PNKD): c.998T> G (p.Leu333Arg) single nucleotide variant Uncertain significance 2:219209544-219209544 2:218344821-218344821
5 PNKD NM_015488.5(PNKD): c.964C> T (p.Arg322Trp) single nucleotide variant Uncertain significance 2:219209273-219209273 2:218344550-218344550
6 PNKD NM_015488.5(PNKD): c.665G> A (p.Arg222Gln) single nucleotide variant Uncertain significance 2:219206751-219206751 2:218342028-218342028
7 PNKD NM_015488.5(PNKD): c.101C> G (p.Ser34Cys) single nucleotide variant Uncertain significance 2:219136137-219136137 2:218271414-218271414
8 PNKD NM_015488.5(PNKD): c.230T> C (p.Leu77Pro) single nucleotide variant Uncertain significance 2:219136266-219136266 2:218271543-218271543
9 PNKD NM_015488.5(PNKD): c.281G> A (p.Arg94Gln) single nucleotide variant Uncertain significance 2:219204550-219204550 2:218339827-218339827
10 PNKD NM_015488.5(PNKD): c.293G> T (p.Arg98Leu) single nucleotide variant Uncertain significance 2:219204562-219204562 2:218339839-218339839
11 PNKD NM_015488.5(PNKD): c.326C> T (p.Ser109Leu) single nucleotide variant Uncertain significance 2:219204595-219204595 2:218339872-218339872
12 PNKD NM_015488.5(PNKD): c.404T> C (p.Ile135Thr) single nucleotide variant Uncertain significance 2:219204803-219204803 2:218340080-218340080
13 PNKD NM_015488.5(PNKD): c.409G> A (p.Asp137Asn) single nucleotide variant Uncertain significance 2:219204808-219204808 2:218340085-218340085
14 PNKD NM_015488.5(PNKD): c.415C> T (p.Gln139Ter) single nucleotide variant Uncertain significance 2:219204814-219204814 2:218340091-218340091
15 PNKD NM_015488.5(PNKD): c.693del (p.Gly232fs) deletion Uncertain significance 2:219206779-219206779 2:218342056-218342056
16 PNKD NM_015488.5(PNKD): c.698A> G (p.His233Arg) single nucleotide variant Uncertain significance 2:219206784-219206784 2:218342061-218342061
17 PNKD NM_015488.5(PNKD): c.983C> T (p.Thr328Met) single nucleotide variant Uncertain significance 2:219209292-219209292 2:218344569-218344569
18 PNKD NM_015488.5(PNKD): c.984+1G> A single nucleotide variant Uncertain significance 2:219209294-219209294 2:218344571-218344571
19 PNKD NM_015488.5(PNKD): c.1148del (p.Lys383fs) deletion Uncertain significance 2:219209694-219209694 2:218344971-218344971
20 PNKD NM_015488.5(PNKD): c.323A> G (p.His108Arg) single nucleotide variant Uncertain significance rs142536637 2:219204592-219204592 2:218339869-218339869
21 PNKD NM_015488.5(PNKD): c.1102C> G (p.Arg368Gly) single nucleotide variant Uncertain significance rs185906233 2:219209648-219209648 2:218344925-218344925
22 PNKD NM_015488.5(PNKD): c.76_103del (p.Ala26fs) deletion Uncertain significance rs780123062 2:219136112-219136139 2:218271389-218271416
23 PNKD NM_015488.5(PNKD): c.1067C> T (p.Pro356Leu) single nucleotide variant Uncertain significance rs1553516179 2:219209613-219209613 2:218344890-218344890
24 PNKD NM_015488.5(PNKD): c.716A> T (p.Asp239Val) single nucleotide variant Uncertain significance rs1553674341 2:219206802-219206802 2:218342079-218342079

Expression for Familial Paroxysmal Nonkinesigenic Dyskinesia

Search GEO for disease gene expression data for Familial Paroxysmal Nonkinesigenic Dyskinesia.

Pathways for Familial Paroxysmal Nonkinesigenic Dyskinesia

GO Terms for Familial Paroxysmal Nonkinesigenic Dyskinesia

Biological processes related to Familial Paroxysmal Nonkinesigenic Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 PNKD

Sources for Familial Paroxysmal Nonkinesigenic Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....