The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies

Blepharoptosis (ptosis) is classified, based on etiology, into mechanical, cerebral, neurogenic, neuromuscular, myogenic, and due to miscellaneous causes. Primary myopathic diseases are rare causes of blepharoptosis and many patients with myogenic ptosis undergo a series of extensive investigations before a myopathy is being considered. In this study, we report four patients with different myopathic disorders who had blepharoptosis as a presenting symptom of their disease. Moreover, we highlight frequent diagnostic errors and difficulties in patients with myopathies who present blepharoptosis. Lack of clear cut aggravation of symptoms by fatigue and response to cholinesterase inhibitors treatment, the association of proximal, distal or extraocular muscle weakness, and positive family history or evidence of a multi systemic disorder should prompt evaluation of an underlying myopathy.

Automated summary

Blepharoptosis can be classified into various types based on etiology, with primary myopathic diseases being a rare cause. This study reports four cases where blepharoptosis was the presenting symptom of different myopathic disorders. Patients with blepharoptosis and myopathy may face diagnostic errors and difficulties, but certain signs such as lack of symptom aggravation by fatigue and response to cholinesterase inhibitors treatment should prompt evaluation for an underlying myopathy.