Myotonia: Difference between revisions
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{{Infobox medical condition | |||
| name = Myotonia | |||
| synonyms = | |||
| field = [[Neurology]] | |||
| symptoms = Delayed relaxation of muscles after voluntary contraction | |||
| complications = Muscle stiffness, pain, difficulty with movement | |||
| onset = Varies, often in childhood or adolescence | |||
| duration = Chronic | |||
| causes = Genetic mutations affecting ion channels | |||
| risks = Family history of myotonia | |||
| diagnosis = [[Electromyography]], genetic testing | |||
| differential = [[Muscular dystrophy]], [[Neuropathy]] | |||
| treatment = [[Physical therapy]], [[Medication]] such as [[Mexiletine]] | |||
| medication = [[Mexiletine]], [[Carbamazepine]], [[Phenytoin]] | |||
| frequency = Rare | |||
}} | |||
'''Myotonia''' is a medical term that refers to a condition in which the muscles cannot relax normally. This condition is characterized by prolonged muscle stiffness, difficulty in releasing a grip, and muscle weakness. Myotonia is a symptom of a group of inherited neuromuscular disorders known as [[myotonic disorders]]. | '''Myotonia''' is a medical term that refers to a condition in which the muscles cannot relax normally. This condition is characterized by prolonged muscle stiffness, difficulty in releasing a grip, and muscle weakness. Myotonia is a symptom of a group of inherited neuromuscular disorders known as [[myotonic disorders]]. | ||
== Causes == | == Causes == | ||
Myotonia is caused by an interruption in the normal functioning of the [[ion channels]] in muscle cell membranes. This interruption is usually due to a genetic mutation. The most common forms of myotonia are caused by mutations in the [[CLCN1]] gene and the [[SCN4A]] gene. | Myotonia is caused by an interruption in the normal functioning of the [[ion channels]] in muscle cell membranes. This interruption is usually due to a genetic mutation. The most common forms of myotonia are caused by mutations in the [[CLCN1]] gene and the [[SCN4A]] gene. | ||
== Symptoms == | == Symptoms == | ||
The main symptom of myotonia is muscle stiffness, which can vary in severity and duration. Other symptoms may include muscle weakness, difficulty swallowing, and fatigue. The symptoms of myotonia can be triggered or worsened by cold, fatigue, and stress. | The main symptom of myotonia is muscle stiffness, which can vary in severity and duration. Other symptoms may include muscle weakness, difficulty swallowing, and fatigue. The symptoms of myotonia can be triggered or worsened by cold, fatigue, and stress. | ||
== Diagnosis == | == Diagnosis == | ||
Myotonia is diagnosed through a combination of clinical examination, medical history, and specialized tests. These tests may include [[electromyography]] (EMG), genetic testing, and muscle biopsy. | Myotonia is diagnosed through a combination of clinical examination, medical history, and specialized tests. These tests may include [[electromyography]] (EMG), genetic testing, and muscle biopsy. | ||
== Treatment == | == Treatment == | ||
Treatment for myotonia aims to manage symptoms and improve quality of life. This may involve medication, physical therapy, and lifestyle changes. Medications used to treat myotonia include [[Mexiletine]], [[Phenytoin]], and [[Procainamide]]. | Treatment for myotonia aims to manage symptoms and improve quality of life. This may involve medication, physical therapy, and lifestyle changes. Medications used to treat myotonia include [[Mexiletine]], [[Phenytoin]], and [[Procainamide]]. | ||
== See also == | == See also == | ||
* [[Myotonic dystrophy]] | * [[Myotonic dystrophy]] | ||
* [[Myotonia congenita]] | * [[Myotonia congenita]] | ||
* [[Paramyotonia congenita]] | * [[Paramyotonia congenita]] | ||
* [[Hyperkalemic periodic paralysis]] | * [[Hyperkalemic periodic paralysis]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Muscular disorders]] | [[Category:Muscular disorders]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
Latest revision as of 05:10, 4 April 2025
| Myotonia | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Delayed relaxation of muscles after voluntary contraction |
| Complications | Muscle stiffness, pain, difficulty with movement |
| Onset | Varies, often in childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutations affecting ion channels |
| Risks | Family history of myotonia |
| Diagnosis | Electromyography, genetic testing |
| Differential diagnosis | Muscular dystrophy, Neuropathy |
| Prevention | N/A |
| Treatment | Physical therapy, Medication such as Mexiletine |
| Medication | Mexiletine, Carbamazepine, Phenytoin |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
Myotonia is a medical term that refers to a condition in which the muscles cannot relax normally. This condition is characterized by prolonged muscle stiffness, difficulty in releasing a grip, and muscle weakness. Myotonia is a symptom of a group of inherited neuromuscular disorders known as myotonic disorders.
Causes[edit]
Myotonia is caused by an interruption in the normal functioning of the ion channels in muscle cell membranes. This interruption is usually due to a genetic mutation. The most common forms of myotonia are caused by mutations in the CLCN1 gene and the SCN4A gene.
Symptoms[edit]
The main symptom of myotonia is muscle stiffness, which can vary in severity and duration. Other symptoms may include muscle weakness, difficulty swallowing, and fatigue. The symptoms of myotonia can be triggered or worsened by cold, fatigue, and stress.
Diagnosis[edit]
Myotonia is diagnosed through a combination of clinical examination, medical history, and specialized tests. These tests may include electromyography (EMG), genetic testing, and muscle biopsy.
Treatment[edit]
Treatment for myotonia aims to manage symptoms and improve quality of life. This may involve medication, physical therapy, and lifestyle changes. Medications used to treat myotonia include Mexiletine, Phenytoin, and Procainamide.
See also[edit]
References[edit]
<references />
