Paramyotonia congenita
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| Paramyotonia congenita | |
|---|---|
| |
| Synonyms | Eulenburg disease |
| Pronounce | |
| Specialty | Neurology |
| Symptoms | Muscle stiffness, especially in cold temperatures |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SCN4A gene |
| Risks | Family history |
| Diagnosis | Electromyography, genetic testing |
| Differential diagnosis | Myotonia congenita, hyperkalemic periodic paralysis |
| Prevention | N/A |
| Treatment | Mexiletine, avoiding cold |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
Paramyotonia congenita (also known as Eulenburg's disease) is a rare genetic disorder that affects the muscles. It is characterized by muscle stiffness and difficulty relaxing muscles after use (myotonia), and is often worsened by cold and exercise.
Symptoms
The symptoms of paramyotonia congenita typically appear in the first decade of life. They include:
- Muscle stiffness that worsens with exercise and cold temperatures
- Difficulty relaxing muscles after use (myotonia)
- Episodes of paralysis, which can last from minutes to hours
- Muscle weakness and atrophy
- Eyelid ptosis (drooping of the upper eyelid)
- Strabismus (misalignment of the eyes)
Causes
Paramyotonia congenita is caused by mutations in the SCN4A gene, which provides instructions for making a protein that plays a crucial role in muscles used for movement (skeletal muscles). The mutations lead to a disruption in the normal activity of muscle cells, causing the characteristic features of paramyotonia congenita.
Diagnosis
The diagnosis of paramyotonia congenita is based on the clinical symptoms, family history, and genetic testing to identify mutations in the SCN4A gene.
Treatment
There is currently no cure for paramyotonia congenita. Treatment is focused on managing the symptoms and may include:
- Physical therapy to improve muscle strength and flexibility
- Medications such as Mexiletine to help control myotonia
- Avoidance of triggers such as cold temperatures and strenuous exercise
Prognosis
The prognosis for individuals with paramyotonia congenita varies. Some people may have mild symptoms and lead relatively normal lives, while others may experience severe symptoms that significantly affect their quality of life.
See also
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 |
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| Diseases of muscle, neuromuscular junction, and neuromuscular disease | ||||||||||||||
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| Diseases of ion channels | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
See also: ion channels
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Contributors: Prab R. Tumpati, MD
