Paramyotonia congenita

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

• Myotonia congenita
• Hyperkalemic periodic paralysis
• Hypokalemic periodic paralysis

Paramyotonia congenita Resources
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