Myotonia, Potassium-Aggravated (MYOSCN4A)

Alias:
Potassium-Aggravated Myotonia
Myotonia Fluctuans
Myotonia Congenita, Atypical, Acetazolamide-Responsive
Myotonia Permanens
Pam
Acetazolamide-Responsive Myotonia
Sodium Channel Muscle Disease
Potassium Aggravated Myotonia
K+-Aggravated Myotonia
K-Aggravated Myotonia
Myotonia Congenita, Acetazolamide-Responsive
Acetazolamide-Responsive Congenital Myotonia
Myotonia Congenita Acetazolamide-Responsive
Exercise-Induced Delayed-Onset Myotonia
Myotonia-Painful Contractions Syndrome
Acz-Responsive Congenital Myotonia
Hyperkalemic Periodic Paralysis
Myotonia Potassium-Aggravated
Myotonia Congenita, Atypical
Painful Congenital Myotonia
Myotonia Congenita Atypical
Sodium Channel Myotonia
Acz-Responsive Myotonia
Myotonia Scn4a-Related
Fluctuating Myotonia
Painful Myotonia
Myoscn4a
Scm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myotonia, Potassium-Aggravated, also known as potassium-aggravated myotonia, is related to myotonia and paramyotonia congenita, and has symptoms including stridor, muscular stiffness and myalgia. An important gene associated with Myotonia, Potassium-Aggravated is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). The drugs Diclofenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and brain, and related phenotypes are hypertonia and myotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
1
8
20

Medical Symptom

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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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