Paramyotonia Congenita (PMC)

Alias:
Paramyotonia Congenita of Von Eulenburg
Pmc
Paralysis Periodica Paramyotonica
Eulenburg Disease
Paralysis Periodica Paramyotonia
Paramyotonia Congenita Without Cold Paralysis
Von Eulenburg Paramyotonia Congenita
Myotonia Congenita Intermittens
Von Eulenberg's Disease
Eulenburg Syndrome
Paramyotonia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Paramyotonia Congenita, also known as pmc, is related to myotonia and periodic paralysis, and has symptoms including muscular stiffness and myalgia. An important gene associated with Paramyotonia Congenita is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. The drugs Lamotrigine and Diclofenamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are dysphagia and neonatal hypotonia
Related ID:
MESH:D020967
ICD11:1740060527

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
1-9/1000000
22
241
52

Medical Symptom

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Gene & Mutation

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References Literature

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