TMD
MCID: TBL009
MIFTS: 34

Tibial Muscular Dystrophy (TMD)

Categories: Muscle diseases

Aliases & Classifications for Tibial Muscular Dystrophy

MalaCards integrated aliases for Tibial Muscular Dystrophy:

Name: Tibial Muscular Dystrophy 12 24 25 37 15 73
Udd Myopathy 12 24 25
Tardive Tibial Muscular Dystrophy 12 25
Udd Distal Myopathy 24 25
Tmd 12 25
Tibial Muscular Dystrophy, Tardive 73
Finnish Tibial Muscular Dystrophy 12
Udd-Markesbery Muscular Dystrophy 25
Dystrophy, Muscular, Tibial 40
Udd Type Distal Myopathy 12
Distal Titinopathy 12
Distal Myopathies 44

Characteristics:

GeneReviews:

24
Penetrance Penetrance is close to 100% at age 65 years...

Classifications:



External Ids:

Disease Ontology 12 DOID:0111078
MeSH 44 D049310
KEGG 37 H01976

Summaries for Tibial Muscular Dystrophy

Genetics Home Reference : 25 Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking.

MalaCards based summary : Tibial Muscular Dystrophy, also known as udd myopathy, is related to muscular dystrophy and miyoshi muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy is TTN (Titin). Affiliated tissues include skeletal muscle, bone and lung, and related phenotypes are rimmed vacuoles and clumsiness

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

GeneReviews: NBK1323

Related Diseases for Tibial Muscular Dystrophy

Diseases related to Tibial Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 30.6 CAPN3 CMYA5 TTN
2 miyoshi muscular dystrophy 30.0 CAPN3 TTN
3 myositis 29.7 CAPN3 TTN
4 limb-girdle muscular dystrophy 29.7 CAPN3 TTN
5 muscular dystrophy, limb-girdle, autosomal recessive 2 29.6 CAPN3 TTN
6 tibial muscular dystrophy, tardive 12.7
7 welander distal myopathy 12.6
8 distal myopathy with vocal cord weakness 12.5
9 welander distal myopathy, swedish type 12.5
10 cav3-related distal myopathy 12.4
11 myopathy, distal, 1 12.3
12 late-onset distal myopathy, markesbery-griggs type 12.2
13 amyotrophic lateral sclerosis 21 12.1
14 adult-onset distal myopathy due to vcp mutation 12.0
15 klhl9-related early-onset distal myopathy 12.0
16 inclusion body myositis 12.0
17 myeloproliferative syndrome, transient 11.9
18 myopathy, distal, with anterior tibial onset 11.7
19 myopathy, distal, 4 11.7
20 myopathy, distal, 5 11.7
21 oculopharyngodistal myopathy 11.5
22 nonaka myopathy 11.4
23 rippling muscle disease 2 11.3
24 myopathy, distal, with rimmed vacuoles 11.3
25 miyoshi muscular dystrophy 1 11.2
26 myopathy, distal, 3 11.2
27 dysferlinopathy 11.1
28 myopathy, distal, infantile-onset 11.0
29 myopathy, distal, with early respiratory failure, autosomal dominant 11.0
30 myopathy, myofibrillar, 2 11.0
31 myopathy, myofibrillar, 4 11.0
32 myopathy, distal, tateyama type 11.0
33 myopathy, scapulohumeroperoneal 11.0
34 gne-related myopathy 11.0
35 distal nebulin myopathy 11.0
36 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.0
37 ring dermoid of cornea 10.7
38 bruxism 10.4
39 joint disorders 10.3
40 down syndrome 10.2
41 anxiety 10.1
42 headache 10.1
43 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 CAPN3 TTN
44 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 CAPN3 TTN
45 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 CAPN3 TTN
46 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 CAPN3 TTN
47 alexithymia 10.0
48 whiplash 10.0
49 oculopharyngeal muscular dystrophy 10.0
50 myopathy 10.0

Graphical network of the top 20 diseases related to Tibial Muscular Dystrophy:



Diseases related to Tibial Muscular Dystrophy

Symptoms & Phenotypes for Tibial Muscular Dystrophy

Human phenotypes related to Tibial Muscular Dystrophy:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 32 frequent (33%) HP:0003805
2 clumsiness 32 occasional (7.5%) HP:0002312
3 difficulty walking 32 frequent (33%) HP:0002355
4 mildly elevated creatine phosphokinase 32 frequent (33%) HP:0008180
5 increased variability in muscle fiber diameter 32 frequent (33%) HP:0003557
6 foot dorsiflexor weakness 32 frequent (33%) HP:0009027
7 increased muscle lipid content 32 frequent (33%) HP:0009058
8 peroneal muscle atrophy 32 frequent (33%) HP:0009049
9 centrally nucleated skeletal muscle fibers 32 frequent (33%) HP:0003687
10 steppage gait 32 frequent (33%) HP:0003376
11 quadriceps muscle weakness 32 occasional (7.5%) HP:0003731
12 distal upper limb muscle weakness 32 very rare (1%) HP:0008959
13 ankle weakness 32 frequent (33%) HP:0031374
14 emg 32 frequent (33%) HP:0003458

Drugs & Therapeutics for Tibial Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Tibial Muscular Dystrophy

Cochrane evidence based reviews: distal myopathies

Genetic Tests for Tibial Muscular Dystrophy

Anatomical Context for Tibial Muscular Dystrophy

MalaCards organs/tissues related to Tibial Muscular Dystrophy:

41
Skeletal Muscle, Bone, Lung, Myeloid, Bone Marrow

Publications for Tibial Muscular Dystrophy

Articles related to Tibial Muscular Dystrophy:

(show all 12)
# Title Authors Year
1
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. ( 24618559 )
2014
2
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. ( 19911250 )
2010
3
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). ( 18948003 )
2008
4
Tibial muscular dystrophy with late adult onset in a Spanish family. ( 16218196 )
2005
5
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. ( 15242415 )
2004
6
Tibial muscular dystrophy in a Belgian family. ( 12891679 )
2003
7
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. ( 12145747 )
2002
8
The first European family with tibial muscular dystrophy outside the Finnish population. ( 9855539 )
1998
9
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. ( 9497249 )
1998
10
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. ( 9673987 )
1998
11
Linkage analyses in tibial muscular dystrophy. ( 8666419 )
1996
12
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. ( 8503797 )
1993

Variations for Tibial Muscular Dystrophy

Expression for Tibial Muscular Dystrophy

Search GEO for disease gene expression data for Tibial Muscular Dystrophy.

Pathways for Tibial Muscular Dystrophy

GO Terms for Tibial Muscular Dystrophy

Cellular components related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 CAPN3 TTN
2 M band GO:0031430 8.62 CMYA5 TTN

Biological processes related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.16 CAPN3 TTN
2 response to calcium ion GO:0051592 8.96 CAPN3 TTN
3 sarcomere organization GO:0045214 8.62 CAPN3 TTN

Molecular functions related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 TTN

Sources for Tibial Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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