Myotonic Dystrophy Type 2

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

CNBP, DMPK, NKX2-5, CCT3, CLCN1, INSR, MBNL1, IDE, ZNF273, TLR4, CELF1, UCP1, TNF, HP, VDR, IAPP, LPL, GCG, FXN, LEP, VEGFA, SFRP4, SLC30A10, DIO2, AGT, ACE, SCN4A, PPARG, SLC30A8, SLC22A1

CNBP, DMPK, NKX2-5, CCT3, CLCN1, INSR, MBNL1, IDE, ZNF273, TLR4, CELF1, UCP1, TNF, HP, VDR, IAPP, LPL, GCG, FXN, LEP, VEGFA, SFRP4, SLC30A10, DIO2, AGT, ACE, SCN4A, PPARG, SLC30A8, SLC22A1, XRCC3, SI, SLC2A4, STC1, SST, TAC3, TAGLN, TGFB1, TK2, TNFRSF1B, TLR3, ACTB, MTMR1, EIF2S2, MIR30C1, MIR140, MIR130B, MIR130A, PGP, BEAN1, TRPM6, SLC25A21, P2RY12, DCLRE1C, PRDM16, RETN, HSPA14, ADIPOR1, REM1, IGHD1-14, ATXN10, ATF6, PPARGC1A, SHBG, ADIPOQ, CD163, MGAM, RAPGEF5, PTPN1, SELP, HSPA9, HNF4A, HFE, GIP, GCK, GAP43, FASN, EIF2S3, EIF2S1, EEF2, DPP4, DAG1, CYBA, CHI3L1, CD59, CAV1, CASR, BPI, AR, AQP7, APOB, APOA1, HSPA4, HSPD1, SELE, IFNA1, BRD2, RAN, RAD23B, PVR, ADRB3, MAPK3, PPP2R2B, PPARA, POU2F1, PLG, SERPINE1, ODC1, NEDD4, MYD88, MT1A, LEPR, IL15, IL10, IL6, IL4, IFNA13, MIR30C2

Drugs

(6aS)-1,10-dimethoxy-6-methyl-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline-2,9-diol

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Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person's twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. The severity of myotonic dystrophy type 2 varies widely among affected people, even among family members. It is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene. Treatment is based on each person's specific signs and symptoms.