Tibial Muscular Dystrophy (TMD)

Alias:
Udd Myopathy
Tmd
Tardive Tibial Muscular Dystrophy
Finnish Tibial Muscular Dystrophy
Distal Titinopathy
Tibial Muscular Dystrophy, Tardive
Udd-Markesbery Muscular Dystrophy
Distal Myopathy, Udd Type
Udd Type Distal Myopathy
Udd Distal Myopathy
Distal Myopathies
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tibial Muscular Dystrophy, also known as udd myopathy, is related to tibial muscular dystrophy, tardive and miyoshi muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy is TTN (Titin), and among its related pathways/superpathways are Striated muscle contraction pathway and Cardiomyocyte signaling pathways converging on Titin. The drugs Glucosamine and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are myopathy and emg: myopathic abnormalities
Related ID:
MESH:D049310

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Adult
1-5/10000
26
206
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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