Paramyotonia congenita

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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[edit | edit source]

The symptoms of paramyotonia congenita typically appear in the first decade of life. They include:

Causes[edit | edit source]

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[edit | edit source]

The diagnosis of paramyotonia congenita is based on the clinical symptoms, family history, and genetic testing to identify mutations in the SCN4A gene.

Treatment[edit | edit source]

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[edit | edit source]

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[edit | edit source]


Paramyotonia congenita Resources

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Contributors: Prab R. Tumpati, MD