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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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DYT locus symbols for dystonia

DYT locus symbols for dystonia
Locus Designation Mode of inheritance Clinical features Chromosome, mutation, and gene product
DYT1 Dystonia 1, torsion AD Typically begins in childhood; onset in limb often with progression to generalized dystonia 9q34; GAG deletion in TOR1A gene causes abnormality in ATP-binding protein, torsinA
DYT2 Dystonia 2, torsion AR Childhood onset, generalized or segmental; Roma families 1p35.1; HPCA gene that encodes hippocalcin
DYT3 X-linked dystonia-parkinsonism (Lubag) X-linked recessive Segmental or generalized dystonia with parkinsonism; predominantly in males from Panay island in Philippines Xq13.1; TAF1 gene
DYT4 Whispering dysphonia AD Laryngeal and cervical dystonia, often with progression to generalized dystonia 19p13.3; mutations in the TUBB4A gene
DYT5 Dopa-responsive dystonia/parkinsonism AD Dystonia with or without parkinsonism; dramatic response to levodopa 14q22; GCH1 locus; mutations in GTP cyclohydrolase I gene
Segawa syndrome AR Dystonia with or without parkinsonism; diurnal variation, with worst symptoms in evening; marked response to levodopa 11p15.5; mutations in the tyrosine hydroxylase gene; tyrosine hydroxylase deficiency
DYT6 Dystonia 6, torsion AD Adolescent-onset dystonia of mixed type; mostly segmental dystonia; mixed limb, cervical, cranial; Amish-Mennonite, German, Irish, Italian families 8p11.21; mutations in the THAP1 gene
DYT7 Dystonia 7, torsion AD Adult-onset focal dystonia with cervical dystonia, limb dystonia, dysphonia, or blepharospasm; German family 18p; gene and product unknown
DYT8 Paroxysmal nonkinesigenic dyskinesia 1 AD Episodes of dystonia/choreoathetosis not precipitated by exercise or activity 2q35; MR1 gene involved in myofibrillogenesis regulation
DYT9 (allelic with DYT18) Paroxysmal choreoathetosis with episodic spasticity and ataxia AD Episodes of dystonia, diplopia, and paresthesia with spastic paraplegia between attacks 1p34.2; mutations in the SLC2A1 gene that encodes the glucose transporter type 1
DYT10 Episodic kinesigenic dyskinesia 1 (paroxysmal kinesigenic dyskinesia) AD Episodic choreoathetosis and dystonia brought on by exercise/activity 16p11.2; mutations in the PRRT2 gene
DYT11 Myoclonus-dystonia AD Myoclonic jerks associated with variable features of dystonia; very alcohol responsive 7q; epsilon-sarcoglycan gene (SGCE)
DYT12 Rapid-onset dystonia-parkinsonism AD Onset of dystonia and parkinsonism over days to months 19q; ATP1A3 gene that encodes the Na+/K+ -ATPase alpha3 subunit
DYT13 Dystonia 13, torsion AD Early adult-onset multifocal and segmental dystonia with cervical, cranial, and arm dystonia 1p36.32-p36.13; gene and product unknown
DYT14 Dopa-responsive dystonia (now included under DYT5)      
DYT15 Dystonia 15, myoclonic AD Myoclonus and dystonia 18p11; gene and product unknown
DYT16 Dystonia 16 AR Early-onset generalized dystonia; some cases with parkinsonism unresponsive to levodopa 2q31.3; PRKRA gene
DYT17 Dystonia 17, torsion AR Adolescent onset in neck with regional spread 20p11.2-q13.12; gene and product unknown
DYT18 (allelic with DYT9) Paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia (GLUT1 deficiency syndrome 2) AD Episodes of dystonia, diplopia, paresthesias with spastic paraplegia between attacks 1p34.2; mutations in the SLC2A1 gene that encodes the glucose transporter type 1
DYT19 Episodic kinesigenic dyskinesia 2 (paroxysmal kinesigenic dyskinesia) AD Episodic choreoathetosis and dystonia brought on by exercise/activity 16q13-q22.1; gene and product unknown
DYT20 Paroxysmal nonkinesigenic dyskinesia 2 AD Spontaneous episodes of dystonia 2q31; gene and product unknown
DYT21 Dystonia 21 AD Adolescent to adult onset; generalized or multifocal 2q14.3-q21.3; gene and product unknown
DYT23 Dystonia 23 AD Adult-onset cervical dystonia 9q34, CIZ1 gene
DYT24 Dystonia 24 AD Adult-onset craniocervical dystonia affecting the neck, laryngeal muscles, and arms 11p14.2, ANO3 gene
DYT25 Dystonia 25 AD Adult-onset cervical dystonia with regional spread 18p11.21, GNAL gene
DYT26 Dystonia 26, myoclonic AD Myoclonus in the first decades of life; craniocervical dystonia develops eventually 22p12.3; KCTD17 gene encoding the BTB/POZ domain-containing protein KCTD17
DYT27 Dystonia 27 AR Segmental isolated craniocervical and limb dystonia in the first decades of life 2q37.3; COL6A3 gene encoding the collagen type VI alpha 3 chain
DYT28 Dystonia 28, childhood onset AD Childhood-onset caudal dystonia with rostral progression, intellectual disabilities, and dysmorphia 19q13.12; KMT2B gene encoding the histone-lysine N-methyltransferase 2B protein
DYT29 Dystonia 29, childhood onset with optic atrophy and basal ganglia abnormalities AR Onset of dystonia and optic atrophy in the first decade of life 1p35.3; MECR gene
DYT30 Dystonia 30 AD Early-onset upper body dystonia with eventual generalization 20p13; VPS16 gene encoding the VPS16 core subunit of CORVET and HOPS complexes
DYT31 Dystonia 31 AR Progressive generalized dystonia with orofacial dyskinesias causing dysarthria and dysphagia 9q22.32; AOPEP gene encoding aminopeptidase O
DYT32 Dystonia 32 AR Adult-onset, slowly progressive dystonia with eventual generalization complicated by dysarthria and dysphagia 11q23.3; VPS11 gene encoding the VPS11 core subunit of CORVET and HOPS complexes
DYT33 Dystonia 33 AD, AR Childhood- to adolescent-onset, slowly progressive focal or generalized dystonia 2p22.2; EIF2AK2 gene encoding the eukaryotic translation initiation factor 2-alpha kinase 2
DYT34 Myoclonic dystonia 34 AD Childhood-onset dystonia involving the hands and neck with tremor and superimposed myoclonus 5q22.3; KCNN2 gene encoding potassium calcium-activated channel subfamily N member 2
AD: autosomal dominant; ATP: adenosine triphosphate; AR: autosomal recessive.
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