Oculopharyngeal muscular dystrophy

Imported from GeneReviews

Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some.

Imported from Human Phenotype Ontology (HPO)

• Ptosis
• Dysphagia
• Dysarthria
• Proximal muscle weakness
• Neck muscle weakness
• Elevated circulating creatine kinase concentration
• Facial palsy
• Mask-like facies
• Distal muscle weakness
• Hypernasal speech
• Gait disturbance
• Limb muscle weakness
• Progressive ptosis