Oculopharyngeal muscular dystrophy synonyms

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder characterized by progressive muscle weakness and wasting. It primarily affects the muscles of the eyes (oculo-), throat (pharyngeal), and sometimes other muscles in the body. OPMD is also known by several other names, including:

• Eulenburg disease: This term is derived from the German neurologist Friedrich Eulenburg, who first described the condition in 1891.


• Braun-Falco syndrome: Named after the German dermatologist Otto Braun-Falco, who contributed to the understanding of OPMD.


• Progressive external ophthalmoplegia with ptosis and dysphagia: This name highlights the key symptoms of the disorder, including eye muscle weakness (ophthalmoplegia), drooping eyelids (ptosis), and difficulty swallowing (dysphagia).


• Pharyngeal-bulbar muscular dystrophy: This term emphasizes the involvement of the pharyngeal and bulbar muscles, which are responsible for swallowing and speech.

OPMD is caused by mutations in the PABPN1 gene, which provides instructions for producing a protein called poly(A)-binding protein nuclear 1. These mutations lead to the formation of abnormal protein clumps within muscle cells, disrupting their normal function and causing muscle weakness.

The symptoms of OPMD typically appear in adulthood, usually between the ages of 40 and 60. Initial signs may include drooping eyelids, difficulty swallowing, and weakness in the muscles of the face, neck, and shoulders. As the disease progresses, individuals may experience more severe swallowing difficulties, voice changes, and generalized muscle weakness.

While there is currently no cure for OPMD, treatment focuses on managing symptoms and improving quality of life. This may involve speech therapy, dietary modifications, and surgical interventions to address swallowing difficulties. Regular monitoring and support from a multidisciplinary healthcare team can help individuals with OPMD manage their condition effectively.