MCID: MYT002
MIFTS: 46

Myotonic Dystrophy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Myotonic Dystrophy

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Aliases & Descriptions for Myotonic Dystrophy:

Name: Myotonic Dystrophy 69 46 24 25 48 66
Myotonia Dystrophica 46 24
Dystrophia Myotonica 46 24
 
Myotonia Atrophica 46 24
Congenital Myotonic Dystrophy 66

Classifications:



Summaries for Myotonic Dystrophy

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NIH Rare Diseases:46 Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. it is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. this condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. people with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. the severity of the condition varies widely among affected people, even among members of the same family. there are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. the symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. myotonic dystrophy type 1 is caused by mutations in the dmpk gene, while type 2 is caused by mutations in the cnbp gene. last updated: 3/12/2014

MalaCards based summary: Myotonic Dystrophy, also known as myotonia dystrophica, is related to myotonic dystrophy 2 and myotonic dystrophy 1. An important gene associated with Myotonic Dystrophy is CDC42BPB (CDC42 Binding Protein Kinase Beta). Affiliated tissues include heart, skeletal muscle and brain, and related mouse phenotype muscle.

Genetics Home Reference:24 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Wikipedia:69 Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly... more...

Related Diseases for Myotonic Dystrophy

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Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to myotonic dystrophy

Symptoms for Myotonic Dystrophy

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Drugs & Therapeutics for Myotonic Dystrophy

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Drugs for Myotonic Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AcyclovirPhase 3176
2
DehydroepiandrosteronePhase 2, Phase 39453-43-09860744
Synonyms:
(+)-Dehydroisoandrosterone
(3-beta)-3-Hydroxyandrost-5-en-17-one
(3beta)-3-hydroxy-Androst-5-en-17-one
(3beta,16alpha)-3,16-dihydroxy-androst-5-en-17-one
17-Chetovis
17-Hormoforin
3-beta-Hydroxy-5-androsten-17-one
3-beta-Hydroxyandrost-5-en-17-one
3b-Hydroxy-D5-androsten-17-one
3b-Hydroxyandrost-5-en-17-one
3beta-Hydroxy-D5-androsten-17-one
3beta-Hydroxyandrost-5-en-17-one
3beta-hydroxy-5-androsten-17-one
3beta-hydroxy-Androst-5-en-17-one
5,6-Dehydroisoandrosterone
5,6-Didehydroisoandrosterone
5-Androsten-3-beta-ol-17-one
5-Androsten-3b-ol-17-one
5-Androsten-3beta-ol-17-one
5-DHEA
5-Dehydro-Epiandrosterone
5-Dehydroepiandrosterone
 
Andrestenol
Androst-5-ene-3b-ol-17-one
Androst-5-ene-3beta-ol-17-one
Androsten-3beta-ol-17-one
Androstenolone
Astenile
D5-Androsten-3b-ol-17-one
D5-Androsten-3beta-ol-17-one
DHA
DHEA
Deandros
Dehydro-epi-androsterone
Dehydroepiandrosterone
Dehydroisoandrosterone
Diandron
Diandrone
Hydroxyandrostenone
Prasterona
Prasterone
Prasteronum
Prestara
Psicosterone
trans-Dehydroandrosterone
3
LamotriginePhase 318284057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
4
FesoterodinePhase 360286930-02-7, 286930-03-86918558
Synonyms:
FESO
 
Fesoterodine
Toviaz
5calcium channel blockersPhase 31889
6
DopaminePhase 2, Phase 3367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
7
MethylphenidatePhase 2, Phase 3369113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
 
Methyl phenidyl acetate
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
8insulinPhase 1, Phase 24401
9ProgestinsPhase 2525
10
NorethindronePhase 29168-22-46230
Synonyms:
(17-alpha)-17-Hydroxy-19-norpregn-4-en-20-yn-3-one
(17alpha)-17-Ethynyl-17-hydroxyestra-4,8(14),9-trien-3-one
17-Ethinyl-19-nor-testosterone
17-Ethinyl-19-nortestosterone
17-Ethynyl-17-hydroxyestr-4-en-3-one
17-Ethynyl-17-hydroxyestr-4-en-3-one (ACD/Name 4.0)
17-Ethynyl-17beta-hydroxyestr-4-en-3-one
17-Ethynyl-19-Nortestosterone
17-Hydroxy-(17alpha)-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-norpregn-4-en-20-yn-3-one
17-Hydroxy-19-Nor-17alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17-alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17alpha-pregn-4-en-20-yn-3-one
17-alpha-Ethynyl-17-beta-hydroxy-4-estren-3-one
17-alpha-Ethynyl-17-hydroxy-4-estren-3-one
17-alpha-Ethynyl-19-norandrost-4-en-17-beta-ol-3-one
17-alpha-Ethynyl-19-nortestosterone
17-alpha-Ethynyl-4-estren-17-ol-3-one
17-beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17-ethynyl-17beta-hydroxyestr-4-en-3-one
17.alpha.-Ethinyl-19-nortestosterone
17.alpha.-Ethynyl-19-nortestosterone
17.alpha.-Ethynyl-4-estren-17-ol-3-one
17alpha-Ethinyl-17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinyl-19-Nortestosterone
17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinylestra-4-en-17beta-ol-3-one
17alpha-Ethynyl-17-hydroxy-4-estren-3-one
17alpha-Ethynyl-17-hydroxyest-4-en-3-one
17alpha-Ethynyl-17beta-hydroxy-19-norandrost-4-en-3-one
17alpha-Ethynyl-17beta-hydroxyestr-4-en-3-one
17alpha-Ethynyl-19-nor-4-androsten-17beta-ol-3-one
17alpha-Ethynyl-19-norandrost-4-en-17beta-ol-3-one
17alpha-Ethynyl-19-nortestosterone
17alpha-Ethynyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-4-estren-17-ol-3-one
17alpha-ethynyl-17-hydroxy-Estr-4-en-3-one
17alpha-ethynyl-17beta-hydroxy-19-Norandrost-4-en-3-one
17alpha-pregn-4-en-20-yn-3-one
17beta-Hydroxy-17alpha-ethynylestr-4-en-3-one
17beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17α-ethinyl-19-nortestosterone
19-Nor-17-alpha-ethynyl-17-beta-hydroxy-4-androsten-3-one
19-Nor-17-alpha-ethynylandrosten-17-beta-ol-3-one
19-Nor-17-alpha-ethynyltestosterone
19-Nor-17-ethinyl testosterone
19-Nor-17-ethinyltestosterone
19-Nor-17.alpha.-ethynyltestosterone
19-Nor-17alpa-ethynyltestosterone
19-Nor-17alpha-Ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-Ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyltestosterone
19-Nor-ethindrone
19-Nor-ethinyl--4,5-testosterone
19-Norethindrone
19-Norethinyltestosterone
19-Norethisterone
19-nor-17α-ethynyltestosterone
4-Estren-17alpha-ethynyl-17beta-ol-3-one
46525_FLUKA
46525_RIEDEL
68-22-4
A3564/0151191
AC-11100
AC1L1IDS
AC1L1M2R
AC1NWAOX
AC1O5EOU
AC1Q6OG5
AI3-26422
AKOS004119895
AR-1C1071
ARONIS24281
Activella
Anhydrohydroxynorprogesterone
Anovulatorio
Anovule
BB_NC-0600
BPBio1_000074
BRD-A39415247-001-02-1
BRD-K92073408-001-03-3
BRN 1915671
BSPBio_000066
BSPBio_002101
Brevicon
Brevinor
Brevinor 21
Brevinor 28
Brevinor-1 21
Brevinor-1 28
C05028
CCRIS 484
CHEBI:7627
CHEMBL1162
CID4536
CID5702093
CID6230
CID6432649
CPD000499579
Camila
Camila (TN)
Ciclovulan
Conceplan
Conludaf
Conludag
D00182
DB00717
Demulen
DivK1c_000553
EINECS 200-681-6
ENT
Errin
Estrinor
Ethinyl-19-nortestosterone
Ethinylnortestosterone
Ethynylmortestosterone
Ethynylnortestosterone
Gencept
Genora
Gestest
HMS1568D08
HMS1920B10
HMS2090D21
HMS2091J10
HMS501L15
HSDB 3370
I06-0104
 
IDI1_000553
Jenest
Jenest-28
KBio1_000553
KBio2_001491
KBio2_004059
KBio2_006627
KBio3_001601
KBioGR_000637
KBioSS_001491
LMST02030097
LS-97425
Loestrin
MLS001076679
MLS001163874
MLS001304093
Menzol
Microneth
Micronett
Micronor
Micronor (TN)
Micronovum
Milli
Mini-Pe
Mini-pill
Minovlar
MolPort-002-507-131
MolPort-002-509-542
MolPort-002-728-977
MolPort-003-861-444
N.E.E
N.E.E.
N0449
N4128_SIGMA
NCGC00178820-01
NCGC00179669-01
NET
NINDS_000553
NSC-9564
NSC9564
Nelova
Nodiol
Nor-Q.D
Nor-Q.D.
Nor-QD
Nora-BE
Noraethisteronum
Noralutin
Norcept
Norcept-E
Norcolut
Norcolute
Noresthisterone
Norethadrone
Norethin
Norethin 1/35 E
Norethin 1/50 M
Norethindirone
Norethindrone
Norethindrone (USP)
Norethindrone Norethisterone
Norethindrone [USAN]
Norethisteron
Norethisterone
Norethisterone (JP15)
Norethisterone [Progestins]
Norethisteronum
Norethisteronum [INN-Latin]
Norethyndron
Norethynodron
Norethynodrone
Noretisterona
Noretisterona [INN-Spanish]
Noretisterone
Noretisterone [DCIT]
Norfor
Norgestin
Noriday
Noriday 28
Norlutate
Norluten
Norlutin
Norluton
Normapause
Norpregneninlone
Norpregneninolone
Norpregneninotone
Oprea1_606355
Orlest
Ortho 1 35
Ortho 7 7 7
Ortho-Novum 1 35
Ortho-Novum 1 50
Ortho-Novum 7 7 7
Ovysmen 0.5 35
Ovysmen 1 35
Prestwick0_000253
Prestwick1_000253
Prestwick2_000253
Prestwick3_000253
Prestwick_646
Primolut N
Primolut-N
Primolut-N (TN)
Proluteasi
SAM002564223
SC 4640
SMR000499579
SMR000718762
SPBio_001052
SPBio_002285
SPECTRUM1500437
ST094767
STK730956
STOCK1N-04274
Spectrum2_001066
Spectrum3_000521
Spectrum4_000079
Spectrum5_001198
Spectrum_001011
Synphase
Synphasic 28
Tri-Norinyl
Triella
Trinovum 21
UNII-T18F433X4S
Utovlan
Utovlar
WLN: L E5 B666 OV MUTJ E FQ F1UU1 -A&F
ZINC03814419
component of Noriday
norethindrone
11
MexiletinePhase 22031828-71-44178
Synonyms:
(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine
(+-)-1-(2,6-dimethylphenoxy)propan-2-amine
(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane
1-(2',6'-Dimethylphenoxy)-2-aminopropane
1-(2,6-Dimethylphenoxy)-2-propanamine
1-(2,6-dimethylphenoxy)propan-2-amine
1-Methyl-2-(2,6-xylyloxy)ethanamine
1-Methyl-2-(2,6-xylyloxy)ethylamine
1-methyl-2-(2,6-xylyloxy)ethanamine
2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride
2-(2-aminopropoxy)-1,3-dimethylbenzene
31828-71-4
5370-01-4 (hydrochloride)
AB00053683
AC1L1HL7
AC1Q2BC5
AC1Q2BC6
BPBio1_000026
BRD-A64092382-003-04-3
BRN 2092205
BSPBio_000022
BSPBio_002254
C07220
CHEBI:115958
CHEBI:6916
CHEMBL558
CID4178
D08215
DB00379
DivK1c_000834
EINECS 250-825-7
I01-6374
IDI1_000834
KBio1_000834
KBio2_002082
KBio2_004650
 
KBio2_007218
KBio3_001474
KBioGR_001270
KBioSS_002082
KO-1173
KO1173
KOE-1173
LS-68257
Lopac0_000784
Mexiletene
Mexiletina
Mexiletina [INN-Spanish]
Mexiletine
Mexiletine (INN)
Mexiletine HCL
Mexiletine [INN:BAN]
Mexiletinum
Mexiletinum [INN-Latin]
Mexilitine
Mexilétine
Mexitil
Mexityl
MolPort-001-790-944
NCGC00015659-04
NCGC00162253-01
NCGC00162253-02
NINDS_000834
Prestwick0_000241
Prestwick1_000241
Prestwick2_000241
Prestwick3_000241
SBB070242
SPBio_002241
Spectrum3_000727
Spectrum4_000795
Spectrum5_001279
Spectrum_001602
UNII-1U511HHV4Z
12
ZincPhase 221547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
13
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1Efficacy and Tolerance of AVAPS Mode in Myotonic DystrophyRecruitingNCT01530841Phase 4
2Efficacy and Safety of DHEA for Myotonic DystrophyCompletedNCT00167609Phase 2, Phase 3
3Methylphenidate in Myotonic Dystrophy Type 1CompletedNCT01421992Phase 2, Phase 3
4Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
5Phase 3 Clinical Study for the Treatment of Cold SoreCompletedNCT00769314Phase 3
6PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AKCompletedNCT00308867Phase 3
7Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder SyndromeCompletedNCT00220402Phase 3
8A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder SyndromeCompletedNCT00220363Phase 3
9Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL)CompletedNCT00747227Phase 3
10RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic DystrophyRecruitingNCT00127582Phase 3
11Efficacy and Tolerance of Early Launching of Nocturnal Non InvasiveActive, not recruitingNCT01225614Phase 3
12Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)CompletedNCT00233519Phase 1, Phase 2
13Study of Tideglusib in Adolescent and Adult Patients With Myotonic DystrophyRecruitingNCT02858908Phase 2
14Compassionate Use of Omegaven® in the Treatment of Parenteral Nutrition Induced Hepatic InjuryRecruitingNCT01325584Phase 2
15Estriol Treatment in Multiple Sclerosis (MS): Effect on CognitionRecruitingNCT01466114Phase 2
16Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1Active, not recruitingNCT01406873Phase 2
17A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1Active, not recruitingNCT02312011Phase 1, Phase 2
18Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1Active, not recruitingNCT00577577Phase 2
19Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
20The Efficacy of Using Far Infrared Radiation to Manage Muscular DystrophiesActive, not recruitingNCT00674843Phase 1
21Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up StudyCompletedNCT02729597
22Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic DystrophyCompletedNCT00004769
23Postural Spirometry Changes in Ambulatory Myotonic Dystrophy PatientsCompletedNCT01242007
24DM1 Heart Registry - DM1 Respiratory RegistryCompletedNCT01136330
25Quality of Life in Neuromuscular DiseaseCompletedNCT02895763
26Myotonic Dystrophy Family RegistryRecruitingNCT02398786
27Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
28PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study)RecruitingNCT02831504
29Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic DystrophyRecruitingNCT02880735
30Multicenter Observational Study of Myotonic Dystrophy Type 1RecruitingNCT02308657
31Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic DystrophyRecruitingNCT02269865
32Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ?RecruitingNCT02375087
33Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic DystrophyRecruitingNCT00745238
34European Home Mechanical Ventilation RegistryRecruitingNCT02315339
35Non Invasive Prenatal Testing (NIPT) of Single-gene DisordersRecruitingNCT02339402
36Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular DisordersRecruitingNCT02833168
37Observational Prolonged Trial in Myotonic Dystrophy Type 1Active, not recruitingNCT02118779
38Arrhythmias in Myotonic Muscular DystrophyActive, not recruitingNCT00622453
39An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-Enrolling by invitationNCT02708784
40Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
41Development of New Prenatal Diagnostic Tests From Maternal BloodTerminatedNCT00314691

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

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Genetic tests related to Myotonic Dystrophy:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy25

Anatomical Context for Myotonic Dystrophy

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MalaCards organs/tissues related to Myotonic Dystrophy:

34
Heart, Skeletal muscle, Brain, Testes, Liver, Lung, Endothelial

Animal Models for Myotonic Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Myotonic Dystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.9CKM, CLCN1, DMPK, MBNL1, MBNL2, MBNL3

Publications for Myotonic Dystrophy

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Articles related to Myotonic Dystrophy:

(show top 50)    (show all 1211)
idTitleAuthorsYear
1
Gastrobronchial fistula following minimally invasive esophagectomy for esophageal cancer in a patient with myotonic dystrophy: Case report. (26520033)
2015
2
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions. (25712547)
2015
3
Brain tumors in patients with myotonic dystrophy: a population-based study. (26508558)
2015
4
Myotonic dystrophy: diagnosis, management and new therapies. (25121518)
2014
5
Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES). (25264166)
2014
6
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. (24310756)
2013
7
Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy. (24417793)
2013
8
Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. (22959494)
2012
9
Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial. (22578232)
2012
10
A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization. (23091329)
2012
11
Pulmonary thromboembolism in a patient with myotonic dystrophy type 1. (23349604)
2012
12
Emergency caesarean section in a patient with myotonic dystrophy: a case of failed postoperative extubation in a patient with mild disease. (21485681)
2011
13
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. (21777352)
2011
14
Alternative splicing of PDLIM3/ALP, for I+-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. (21549096)
2011
15
Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 A9 1 nucleotide UU internal loop conformations. (21988728)
2011
16
Saccharomyces cerevisiae Gis2 interacts with the translation machinery and is orthogonal to myotonic dystrophy type 2 protein ZNF9. (21277287)
2011
17
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. (21623381)
2011
18
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (21263144)
2011
19
CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. (20801043)
2010
20
Ventricular dysfunction in type 1 myotonic dystrophy: electrical, mechanical, or both? (19395098)
2010
21
Fluoxetine blocks myotonic runs and reverts abnormal surface electromyogram pattern in patients with myotonic dystrophy type 1. (19667977)
2009
22
Laparoscopic cholecystectomy for cholelithiasis in a patient with myotonic dystrophy. (19660233)
2009
23
Non-ischemic cardiomyopathy attributed to adult myotonic dystrophy. (19949641)
2009
24
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. (19345584)
2009
25
Myotonic dystrophy and pregnancy. (19813690)
2009
26
MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy]. (19567095)
2009
27
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. (19321466)
2009
28
Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2. (19224318)
2008
29
Sudden death in myotonic dystrophy. (18846682)
2008
30
Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. (18690504)
2008
31
Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. (17238150)
2007
32
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. (17942744)
2007
33
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. (17204048)
2007
34
Somatic CTG*CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy. (17645799)
2007
35
Myotonic dystrophy: emerging mechanisms for DM1 and DM2. (16876389)
2007
36
Italian guidelines for molecular analysis in myotonic dystrophies. (17039977)
2006
37
Outcome and effect of pregnancy in myotonic dystrophy type 2. (16505316)
2006
38
ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. (16862542)
2006
39
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. (16723374)
2006
40
Aerobic training in patients with myotonic dystrophy type 1. (15852373)
2005
41
Congenital myotonic dystrophy. (11407162)
2001
42
Developmental regulation of myotonic dystrophy protein kinase in human muscle cells in vitro. (9607721)
1998
43
Congenital myotonic dystrophy pathology and somatic mosaicism. (9371942)
1997
44
De novo myotonic dystrophy mutation in a Nigerian kindred. (7726160)
1995
45
Myotonic dystrophy and limb girdle muscular dystrophy in one family. (8086779)
1994
46
Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. (1970795)
1990
47
Congenital myotonic dystrophy. Changes in muscle pathology with ageing. (3806137)
1987
48
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. (3502690)
1986
49
Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis. (3564952)
1986
50
Myxedema and myotonic dystrophy. (5008040)
1972

Variations for Myotonic Dystrophy

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Expression for genes affiliated with Myotonic Dystrophy

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Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for genes affiliated with Myotonic Dystrophy

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GO Terms for genes affiliated with Myotonic Dystrophy

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Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actomyosinGO:004264110.5CDC42BPA, CDC42BPB
2cell leading edgeGO:00312529.7CDC42BPA, CDC42BPB, CDC42BPG
3cytoplasmGO:00057377.0CDC42BPA, CDC42BPB, CDC42BPG, CELF1, MBNL1, MBNL2

Biological processes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actomyosin structure organizationGO:003103210.4CDC42BPA, CDC42BPB
2actin cytoskeleton reorganizationGO:00315329.7CDC42BPA, CDC42BPB, CDC42BPG
3regulation of RNA splicingGO:00434849.4CELF1, MBNL1, MBNL2, MBNL3
4protein phosphorylationGO:00064689.1CDC42BPA, CDC42BPB, CDC42BPG, DMPK
5mRNA processingGO:00063979.0CELF1, MBNL1, MBNL2, MBNL3
6RNA splicingGO:00083809.0MBNL1, MBNL2, MBNL3

Molecular functions related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1magnesium ion bindingGO:00002879.9CDC42BPA, CDC42BPB, CDC42BPG
2protein serine/threonine kinase activityGO:00046749.6CDC42BPA, CDC42BPB, CDC42BPG, DMPK
3poly(A) RNA bindingGO:00448228.9CELF1, CNBP, MBNL1, MBNL2, MBNL3
4protein bindingGO:00055155.4CDC42BPA, CDC42BPB, CDC42BPG, CELF1, CKM, CLCN1

Sources for Myotonic Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet