Paramyotonia congenita

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Paramyotonia congenita (pronunciation: par-a-my-o-to-nia con-gen-i-ta) is a rare genetic disorder that affects the muscles, causing them to become stiff or weak. The condition is also known as Eulenburg's disease.

Etymology

The term Paramyotonia congenita is derived from Greek words: para meaning beside, myo meaning muscle, tonia meaning tension, and congenita meaning present from birth.

Symptoms

The primary symptom of Paramyotonia congenita is myotonia, a condition in which the muscles are unable to relax after contracting. This can lead to stiffness, weakness, and sometimes muscle pain. Other symptoms may include difficulty swallowing (dysphagia), speech problems (dysarthria), and eyelid drooping (ptosis).

Causes

Paramyotonia congenita is caused by mutations in the SCN4A gene. This gene provides instructions for making a protein that plays a crucial role in muscles' ability to contract and relax. The mutations disrupt the function of this protein, leading to the symptoms of Paramyotonia congenita.

Diagnosis

Diagnosis of Paramyotonia congenita typically involves a physical examination, a review of the patient's medical history, and genetic testing to identify mutations in the SCN4A gene. Electromyography (EMG) may also be used to assess the electrical activity in the muscles.

Treatment

There is currently no cure for Paramyotonia congenita. Treatment is focused on managing symptoms and may include medications to help control muscle stiffness and weakness. Physical therapy may also be beneficial.

See also

External links

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