Chronic progressive external ophthalmoplegia

Chronic Progressive External Ophthalmoplegia (CPEO) is a rare neuromuscular disorder characterized by slowly progressive weakness of the extraocular muscles and, in some cases, other muscles.

Pronunciation

Chronic Progressive External Ophthalmoplegia is pronounced as "kron-ik pro-gres-iv ek-stur-nal of-thal-mo-plee-ja".

Etymology

The term "Chronic Progressive External Ophthalmoplegia" is derived from the Greek words "chronos" (time), "pro" (before), "ophthalmos" (eye), and "plegia" (paralysis). It refers to the slow, progressive nature of the disease and its primary effect on the muscles controlling eye movement.

Symptoms

The primary symptom of CPEO is the gradual weakening of the extraocular muscles, leading to ptosis (drooping of the eyelids) and ophthalmoplegia (paralysis or weakness of the eye muscles). Other symptoms may include dysphagia (difficulty swallowing), dysarthria (difficulty speaking), and general muscle weakness.

Causes

CPEO is most commonly caused by mutations in the mitochondrial DNA, leading to impaired energy production in the cells. It can also be associated with other mitochondrial disorders, such as Kearns-Sayre syndrome and Pearson syndrome.

Diagnosis

Diagnosis of CPEO is based on clinical examination, patient history, and specialized tests such as electromyography (EMG) and muscle biopsy. Genetic testing may also be performed to identify any mitochondrial DNA mutations.

Treatment

There is currently no cure for CPEO. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and surgical correction of ptosis.

Related Terms

• Mitochondrial disorders
• Extraocular muscles
• Ptosis
• Ophthalmoplegia
• Dysphagia
• Dysarthria
• Electromyography
• Muscle biopsy
• Kearns-Sayre syndrome
• Pearson syndrome

External links

• Medical encyclopedia article on Chronic progressive external ophthalmoplegia
• Wikipedia's article - Chronic progressive external ophthalmoplegia

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