Causes of Oculopharyngeal Muscular Dystrophy
There is a genetic disorder known as oculopharyngeal muscular dystrophy (OPMD) that leads to progressive muscle weakness. It is caused by an abnormal expansion of the (GCN) n repeat in the PABPN1 gene. Over time, this expansion impairs muscle cells by forming protein aggregates.
Symptoms of Oculopharyngeal Muscular Dystrophy
The following symptoms of OPMD typically appear in adulthood:
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The drooping of the eyelids is called ptosis.
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In dysphagia, liquids and solids are difficult to swallow.
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An inability to express oneself facially.
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Proximal muscle weakness: Especially in the upper limbs and thighs.
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Hoarseness or weak voice caused by throat muscle weakness.
The diagnosis of oculopharyngeal muscular dystrophy
Diagnosis involves:
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Examining symptoms and medical history as part of the clinical evaluation.
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Testing for the (GCN) n repeat expansion in PABPN1.
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Muscle electrical activity is assessed with electromyography (EMG).
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Examination of muscle tissue for characteristic changes is called a muscle biopsy.
Treatment of Oculopharyngeal Muscular Dystrophy
OPMD cannot be cured, but treatment focuses on managing symptoms and improving quality of life:
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Exercises and techniques to improve swallowing.
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The purpose of eyelid surgery is to improve vision by repairing ptosis.
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The goal of speech therapy is to improve the clarity and projection of the voice.
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Exercises designed to maintain muscle strength and mobility.
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Assuring adequate nutrition despite swallowing difficulties.
Prevention of Oculopharyngeal Muscular Dystrophy
OPMD is a genetic disorder, so prevention involves:
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Individuals and families at risk of inheriting OPMD are encouraged to seek genetic counseling.
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Recognition of symptoms and genetic testing for early intervention are essential to early diagnosis.
In this overview, we discuss the causes, symptoms, diagnosis, treatment options, and prevention strategies of oculopharyngeal muscular dystrophy.
