Charcot-Marie-Tooth Disease

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

PMP22, GDAP1, MPZ, LRSAM1, FIG4, TRPV4, KIF1B, LMNA, GJB1, MFN2, SH3TC2, DYNC1H1, MORC2, HOXD10, SPTLC1, SBF2, SPTLC2, SETX, EGR2, MTMR2, SLC25A46, NEFL, GARS1, NDRG1, FGD4, DHTKD1, COX6A1, GSTT2, DNM2, SLC12A6, HSPB8, HSPB1, AARS1, ATP6, SBF1, MED25, ARHGEF10, IGHMBP2, MARS1, HINT1, DNAJB2, BAG3, PRX, MAD2L1BP, INF2, WASHC5, CTDP1, LITAF, RAB7B, RNMT, DES, RAB7A, TTN, GART, HSPB3, MTM1, YARS1, HSPB2, JPH1, YARS2, HDAC6, BSCL2, NEFH, PRPS1, HARS1, AIFM1, CMTX3, SMN1, FXN, PMP2, PLEK, PLEKHG5, PDK3, PRKN, CBLL2, MUL1, GNB4, ATP1A1, CANX, CCL2, SPG11, SMN2, DCPS, SOD1, TNF, MCM3AP, AARS2, TSG101, PNKP, SLURP1, RIEG2, SLA2, TFG, TUBA1B, SOX10, MME, CDC42, MAG, POLG, EGFR, KIF5A, APOA2, NEDD4, CNTF, HADHB, ACE, MFN1, DFNA7, DNM1, CUX1, SLC2A4RG, CSF1, DMPK, ROM1, DRP2, MYO15A, EEF1A1, IL17B, SIGLEC7, EMP2, EMP3, SACS, HARS2, TARDBP, TRIM2, IQSEC2, LPAR1, TEKT3, COX10, ERBB3, GSTT2B, GUSBP3, MIR29A, PLEKHM3, GSTK1, ACTG1, DFNA49, APCDD1, SLCO6A1, C1orf194, APP, LRIG3, AHNAK2, ARSA, SERPINC1, DGAT2, SYVN1, ATP7A, BAG1, SCARB2, CD44, CMTX2, ACD, ERBB2, PSIP1, RAB18, BUD31, NTF3, KHSRP, PFN2, GAN, MBS2, PGK1, D1S111, WARS1, PGM1, PGR, TNFRSF1B, TCF3, SURF1, SRY, SPARC, ACTB, PRB4, SNRPN, PRS, PXMP2, SGCA, REN, RFC1, PER2, MYO1A, FUS, SNURF, GBA, SORT1, RER1, GUSBP14, GBAP1, DCTN2, FBLN5, GJB2, GJB3, GLC3B, BCL2L11, GOT2, SCO2, HCLS1, HK1, HPT, IL2RB, KARS1, NRG2, STMN1, LCAT, ARHGEF2, MBP, GUSBP1

Drugs

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Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.

There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.