Myotonic Dystrophy 2 (DM2)

Alias:
Myotonic Dystrophy Type 2
Proximal Myotonic Myopathy
Ricker Syndrome
Promm
Proximal Myotonic Dystrophy
Dystrophia Myotonica 2
Myotonic Disorders
Ricker Disease
Dm2
Myotonic Myopathy, Proximal
Dystrophy, Myotonic, Type 2
Myotonic Dystrophy, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myotonic Dystrophy 2, also known as myotonic dystrophy type 2, is related to myotonic dystrophy and immature cataract, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein). The drugs Lamotrigine and Diclofenamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are cataract and myotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
1-9/1000000
31
259
88

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
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IF
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