title: Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy.
abstract: We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy fatigability of ocular and bilateral proximal limb muscles, atrophy of the testes, and gynecomastia were found on neurologic examination. Repetitive nerve stimulation studies and jitter measurement disclosed the defect of neuromuscular junction transmission. Acetylcholine receptor binding antibody was not detected. Acetylcholine esterase inhibitors relieved these episodic symptoms. A genetic study that showed an expansion of cytosine-adenine-guanine (CAG) repeat in the first exon of the androgen receptor (AR) confirmed the diagnosis of X-linked recessive spinal and bulbar muscular atrophy (X-SBMA). Thus, this case shows a rare association of ocular myasthenia gravis with X-SBMA.
authors.affiliation: From the Departments of *Neurology and daggerGenetics, Medical Faculty of Karadeniz Technical University 61080 Trabzon, Turkey.
authors.forename: Cavit
authors.initials: C
authors.lastname: Boz
authors.forename: Ersan
authors.initials: E
authors.lastname: Kalay
authors.forename: Nilufer
authors.initials: N
authors.lastname: Sahin
authors.forename: Sibel
authors.initials: S
authors.lastname: Velioglu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Ozmenoglu
authors.forename: Ahmet
authors.initials: A
authors.lastname: Karagüzel