Channelopathy: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Channelopathy | |||
| image = [[File:Ion_channel_image_-_Kim_2014_PMCID_3935107.png|250px]] | |||
| caption = Diagram of an ion channel, which can be affected in channelopathies | |||
| field = [[Neurology]], [[Cardiology]], [[Nephrology]] | |||
| symptoms = [[Muscle weakness]], [[Seizures]], [[Arrhythmia]], [[Paralysis]] | |||
| onset = Varies depending on specific condition | |||
| duration = Chronic | |||
| causes = Genetic mutations affecting [[ion channels]] | |||
| risks = Family history of channelopathies | |||
| diagnosis = [[Genetic testing]], [[Electromyography]], [[Electrocardiogram]] | |||
| differential = [[Myopathy]], [[Epilepsy]], [[Cardiomyopathy]] | |||
| treatment = [[Medication]], [[Lifestyle changes]], [[Surgery]] | |||
| prognosis = Varies depending on specific condition and treatment | |||
| frequency = Rare | |||
}} | |||
'''Channelopathy''' is a term that refers to diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital (present at birth) or acquired. Channelopathies are known to affect a variety of body systems, and can result in symptoms ranging from mild to severe. | '''Channelopathy''' is a term that refers to diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital (present at birth) or acquired. Channelopathies are known to affect a variety of body systems, and can result in symptoms ranging from mild to severe. | ||
==Types of Channelopathies== | ==Types of Channelopathies== | ||
Channelopathies can be broadly classified into the following categories: | Channelopathies can be broadly classified into the following categories: | ||
* '''[[Neurological Channelopathies]]''': These include diseases such as [[Epilepsy]], [[Migraine]], [[Ataxia]], and [[Paralysis]]. | * '''[[Neurological Channelopathies]]''': These include diseases such as [[Epilepsy]], [[Migraine]], [[Ataxia]], and [[Paralysis]]. | ||
* '''[[Cardiac Channelopathies]]''': These include conditions such as [[Long QT Syndrome]], [[Short QT Syndrome]], [[Brugada Syndrome]], and [[Catecholaminergic Polymorphic Ventricular Tachycardia]] (CPVT). | * '''[[Cardiac Channelopathies]]''': These include conditions such as [[Long QT Syndrome]], [[Short QT Syndrome]], [[Brugada Syndrome]], and [[Catecholaminergic Polymorphic Ventricular Tachycardia]] (CPVT). | ||
* '''[[Endocrine Channelopathies]]''': These include diseases such as [[Familial Hyperinsulinemic Hypoglycemia]] and [[Thyrotoxic Hypokalemic Periodic Paralysis]]. | * '''[[Endocrine Channelopathies]]''': These include diseases such as [[Familial Hyperinsulinemic Hypoglycemia]] and [[Thyrotoxic Hypokalemic Periodic Paralysis]]. | ||
==Causes of Channelopathies== | ==Causes of Channelopathies== | ||
Channelopathies are usually caused by mutations in the genes that encode ion channels. These mutations can either be inherited or occur spontaneously. In some cases, channelopathies can also be acquired as a result of autoimmune diseases or the use of certain medications. | Channelopathies are usually caused by mutations in the genes that encode ion channels. These mutations can either be inherited or occur spontaneously. In some cases, channelopathies can also be acquired as a result of autoimmune diseases or the use of certain medications. | ||
==Diagnosis and Treatment== | ==Diagnosis and Treatment== | ||
The diagnosis of channelopathies often involves genetic testing, as well as tests to assess the function of the affected body system. Treatment typically involves managing the symptoms and preventing complications. This may include medication, lifestyle changes, and in some cases, surgery. | The diagnosis of channelopathies often involves genetic testing, as well as tests to assess the function of the affected body system. Treatment typically involves managing the symptoms and preventing complications. This may include medication, lifestyle changes, and in some cases, surgery. | ||
==See Also== | ==See Also== | ||
* [[Ion Channel]] | * [[Ion Channel]] | ||
* [[Mutation]] | * [[Mutation]] | ||
* [[Genetic Testing]] | * [[Genetic Testing]] | ||
[[Category:Medical Conditions]] | [[Category:Medical Conditions]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
| Line 26: | Line 35: | ||
[[Category:Cardiac Disorders]] | [[Category:Cardiac Disorders]] | ||
[[Category:Endocrine Disorders]] | [[Category:Endocrine Disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:21, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Channelopathy | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Muscle weakness, Seizures, Arrhythmia, Paralysis |
| Complications | N/A |
| Onset | Varies depending on specific condition |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutations affecting ion channels |
| Risks | Family history of channelopathies |
| Diagnosis | Genetic testing, Electromyography, Electrocardiogram |
| Differential diagnosis | Myopathy, Epilepsy, Cardiomyopathy |
| Prevention | N/A |
| Treatment | Medication, Lifestyle changes, Surgery |
| Medication | N/A |
| Prognosis | Varies depending on specific condition and treatment |
| Frequency | Rare |
| Deaths | N/A |
Channelopathy is a term that refers to diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital (present at birth) or acquired. Channelopathies are known to affect a variety of body systems, and can result in symptoms ranging from mild to severe.
Types of Channelopathies[edit]
Channelopathies can be broadly classified into the following categories:
- Neurological Channelopathies: These include diseases such as Epilepsy, Migraine, Ataxia, and Paralysis.
- Cardiac Channelopathies: These include conditions such as Long QT Syndrome, Short QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
- Endocrine Channelopathies: These include diseases such as Familial Hyperinsulinemic Hypoglycemia and Thyrotoxic Hypokalemic Periodic Paralysis.
Causes of Channelopathies[edit]
Channelopathies are usually caused by mutations in the genes that encode ion channels. These mutations can either be inherited or occur spontaneously. In some cases, channelopathies can also be acquired as a result of autoimmune diseases or the use of certain medications.
Diagnosis and Treatment[edit]
The diagnosis of channelopathies often involves genetic testing, as well as tests to assess the function of the affected body system. Treatment typically involves managing the symptoms and preventing complications. This may include medication, lifestyle changes, and in some cases, surgery.
