Potassium-aggravated myotonia: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Potassium-aggravated myotonia | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] pattern is the mode of inheritance | |||
| synonyms = PAM | |||
| pronounce = | |||
| specialty = [[Neurology]] | |||
| symptoms = Muscle stiffness, [[myotonia]] | |||
| onset = Childhood or adolescence | |||
| duration = Lifelong | |||
| causes = Mutations in the [[SCN4A]] gene | |||
| risks = | |||
| diagnosis = [[Electromyography]], genetic testing | |||
| differential = [[Paramyotonia congenita]], [[Hyperkalemic periodic paralysis]] | |||
| treatment = [[Sodium channel blockers]], [[acetazolamide]] | |||
| medication = [[Mexiletine]], [[acetazolamide]] | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:Myotonia_figure.png|Potassium-aggravated myotonia|thumb|left]] | |||
'''Potassium-aggravated myotonia''' is a rare genetic disorder characterized by muscle stiffness (myotonia) and sometimes mild muscle weakness. This condition is one of a group of genetic disorders known as the [[non-dystrophic myotonias]]. The severity and specific symptoms associated with potassium-aggravated myotonia can vary greatly from one person to another, even among members of the same family. | '''Potassium-aggravated myotonia''' is a rare genetic disorder characterized by muscle stiffness (myotonia) and sometimes mild muscle weakness. This condition is one of a group of genetic disorders known as the [[non-dystrophic myotonias]]. The severity and specific symptoms associated with potassium-aggravated myotonia can vary greatly from one person to another, even among members of the same family. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The primary symptom of potassium-aggravated myotonia is muscle stiffness, particularly in the skeletal muscles. This stiffness is usually triggered by rest after exercise or by consumption of potassium-rich foods. Some affected individuals may also experience mild muscle weakness, particularly in the face and hands. | The primary symptom of potassium-aggravated myotonia is muscle stiffness, particularly in the skeletal muscles. This stiffness is usually triggered by rest after exercise or by consumption of potassium-rich foods. Some affected individuals may also experience mild muscle weakness, particularly in the face and hands. | ||
== Causes == | == Causes == | ||
Potassium-aggravated myotonia is caused by mutations in the [[SCN4A]] gene. This gene provides instructions for making a protein that plays a critical role in muscles used for movement (skeletal muscles). Mutations in the SCN4A gene alter the usual structure and function of these channels, leading to the signs and symptoms of potassium-aggravated myotonia. | Potassium-aggravated myotonia is caused by mutations in the [[SCN4A]] gene. This gene provides instructions for making a protein that plays a critical role in muscles used for movement (skeletal muscles). Mutations in the SCN4A gene alter the usual structure and function of these channels, leading to the signs and symptoms of potassium-aggravated myotonia. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of potassium-aggravated myotonia is based on the presence of characteristic signs and symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include electromyography (EMG), which measures the electrical activity of muscles, and genetic testing, which can identify mutations in the SCN4A gene. | Diagnosis of potassium-aggravated myotonia is based on the presence of characteristic signs and symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include electromyography (EMG), which measures the electrical activity of muscles, and genetic testing, which can identify mutations in the SCN4A gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for potassium-aggravated myotonia. Treatment is symptomatic and supportive and may include medications to help manage muscle stiffness and weakness. Physical therapy may also be beneficial for some individuals. | There is currently no cure for potassium-aggravated myotonia. Treatment is symptomatic and supportive and may include medications to help manage muscle stiffness and weakness. Physical therapy may also be beneficial for some individuals. | ||
== See Also == | == See Also == | ||
* [[Myotonia]] | * [[Myotonia]] | ||
* [[SCN4A]] | * [[SCN4A]] | ||
* [[Non-dystrophic myotonias]] | * [[Non-dystrophic myotonias]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Muscular disorders]] | [[Category:Muscular disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 05:33, 9 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
| Potassium-aggravated myotonia | |
|---|---|
| |
| Synonyms | PAM |
| Pronounce | |
| Specialty | Neurology |
| Symptoms | Muscle stiffness, myotonia |
| Complications | N/A |
| Onset | Childhood or adolescence |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SCN4A gene |
| Risks | |
| Diagnosis | Electromyography, genetic testing |
| Differential diagnosis | Paramyotonia congenita, Hyperkalemic periodic paralysis |
| Prevention | N/A |
| Treatment | Sodium channel blockers, acetazolamide |
| Medication | Mexiletine, acetazolamide |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
Potassium-aggravated myotonia is a rare genetic disorder characterized by muscle stiffness (myotonia) and sometimes mild muscle weakness. This condition is one of a group of genetic disorders known as the non-dystrophic myotonias. The severity and specific symptoms associated with potassium-aggravated myotonia can vary greatly from one person to another, even among members of the same family.
Signs and Symptoms[edit]
The primary symptom of potassium-aggravated myotonia is muscle stiffness, particularly in the skeletal muscles. This stiffness is usually triggered by rest after exercise or by consumption of potassium-rich foods. Some affected individuals may also experience mild muscle weakness, particularly in the face and hands.
Causes[edit]
Potassium-aggravated myotonia is caused by mutations in the SCN4A gene. This gene provides instructions for making a protein that plays a critical role in muscles used for movement (skeletal muscles). Mutations in the SCN4A gene alter the usual structure and function of these channels, leading to the signs and symptoms of potassium-aggravated myotonia.
Diagnosis[edit]
Diagnosis of potassium-aggravated myotonia is based on the presence of characteristic signs and symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include electromyography (EMG), which measures the electrical activity of muscles, and genetic testing, which can identify mutations in the SCN4A gene.
Treatment[edit]
There is currently no cure for potassium-aggravated myotonia. Treatment is symptomatic and supportive and may include medications to help manage muscle stiffness and weakness. Physical therapy may also be beneficial for some individuals.
