A 73-Year-Old Woman With Progressive Ptosis

Carlo R. Bernardino, MD

Disclosures

January 22, 2014

Differential Diagnosis

On the basis of the patient's findings, the likely diagnosis is oculopharyngeal muscular dystrophy (OPMD).[1]

OPMD is a progressive muscular dystrophy that typically has an onset when patients are in their 50s. It causes progressive ptosis, dysphagia, and proximal limb weakness. It is an autosomal dominant disease with a defect on the PABPN1 gene.[2]

Aponeurotic ptosis is the most common type of ptosis, in which the levator aponeurosis disinserts or dehisces from the tarsus and results in ptosis. Because the levator muscle is not affected, levator function is normal (≥ 15 mm). This form of ptosis usually presents later in life.

Chronic progressive external ophthalmoplegia (CPEO) is a progressive form of ptosis. Age of onset is typically young adulthood. In addition to progressive ptosis with poor levator function, extraocular motility also decreases over time. Patients may also develop orbicularis weakness that leads to poor eye closure and exposure. CPEO has been linked to a mutation of mitochondrial DNA.[3]

Myasthenia gravis (MG) is an autoimmune neuromuscular disorder in which circulating antibodies block acetylcholine receptors in the postsynaptic neuromuscular junction. Patients present with variable symptoms of ptosis, double vision, and weakness. Fatigue makes symptoms worse, whereas rest can sometimes restore normal function, albeit for a short period.

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