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פאנלים
Dystonia
GC_68
Last update: 07.01.2026
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, twisting movements, tremor, or repetitive patterned movements. It may occur as an isolated movement disorder or as part of a broader neurological condition associated with parkinsonism, developmental delay, seizures, ataxia, or metabolic disease.
This panel includes genes associated with isolated, combined, complex, and treatable forms of dystonia, including disorders of dopamine synthesis and metabolism, neurodegeneration with brain iron accumulation (NBIA), mitochondrial disease, Wilson disease, and paroxysmal movement disorders. Representative genes include TOR1A, THAP1, KMT2B, GNAL, ANO3, GCH1, TH, SPR, SLC2A1, ATP7B, and PANK2.
This panel is recommended for patients in whom dystonia is the predominant clinical feature, particularly when associated with childhood onset, additional neurologic manifestations, or features suggestive of a treatable or hereditary movement disorder.
ACTB, ADAR, ADCY5, AFG3L2, ANO3, AOPEP, APTX, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP5MC3, ATP7B, BCAP31, C19orf12, CACNA1B, CACNA1G, CAMK4, CHMP2B, CIZ1, COASY, COL6A3, CP, CSTB, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, DRD2, ECHS1, EIF2AK2, FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FTH1, FTL, GAMT, GCDH, GCH1, GNAL, GNAO1, HEXA, HPCA, HPRT1, HTRA2, IRF2BPL, KCNMA1, KCTD17, KMT2B, MECR, MED20, MIPEP, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NDUFA12, NKX2-1, NKX6-2, NR4A2, NUP54, OPTN, PANK2, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, PTS, SERAC1, SGCE, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPATA5L1, SPR, SYNJ1, TAF1, TH, THAP1, TMEM151A, TOR1A, TOR1AIP1, TSPOAP1, TUBB4A, UBTF, VAC14, VPS11, VPS13A, VPS13D, VPS16, WARS2, WDR45, WDR73, XK, XPR1, YY1
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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