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Myotonic Dystrophy 1 (DM1)

VariableMitochondrialAutosomal DominantMuscular DystrophyOMIM 605377
W
View full entry on WUSTL Neuromuscular
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Overview

From WUSTL Neuromuscular

● Clinical features Comparison to DM2 Congenital General Onset Myotonia Neural Prognosis Systemic Weakness Disease mechanisms Epidemiology Genetic testing Laboratory features Muscle pathology Myotonin protein kinase (DMPK) Genetic & Molecular CTG repeats Disease mechanisms Generation effects: Anticipation Protein Also see: Gene Reviews DM1 Gene Locus 5' 3' From: Neil Miller, Johns Hopkins Christmas Tree Cataracts DM1: Epidemiology Most prevalent inherited neuromuscular disease in adults Prevalence in West: 13.5 per 100,000 live births Disease distribution: ? Associated with founder mutation ar

OMIM Entries

OMIM #605377OMIM #600963OMIM #182310OMIM #113650OMIM #606516OMIM #607327OMIM #300413

Related Conditions

Shared genes
ANTIBODIES IN CONNECTIVE TISSUE DISORDERS
ASSOCIATEDANTIBODIESPL-12
ATP Disorders
ATPASE
ATPase Types
ATPASESATPASEFAMILY
Inclusion Body Myopathy with Paget disease of Bone & Dementia 1 (IBMPFD1)
ATPASE
Inflammatory & Immune Myopathies (IIM): Acquired
RNAVAMPINCLUSION
Oculopharyngeal Muscular Dystrophy (OPMD)
RNA
POTASSIUM CHANNELS
ATPASEPLASMOLIPIN
Rhabdomyolysis, Recurrent (RHABDO2)
ATPASE

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.