Biomaterial Database

Chronic progressive external ophthalmoplegia. 1997

K Phanthumchinda, and S Sinswaiwong, and S Jonpiputvanich

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Two cases of chronic progressive external ophthalmoplegia were described. Both of them presented with progressive bilateral ptosis and gradual impairment of ocular mobility. One of the patients had abnormal cerebrospinal fluid protein level. Another patient had muscle biopsy which was compatible with mitochondrial myopathy. Other possible causes of chronic progressive external ophthalmoplegia had been excluded by appropriate investigations. Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Missed diagnosis of this syndrome is common in clinical practice.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009157	Myasthenia Gravis	A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition.	Anti-MuSK Myasthenia Gravis,MuSK MG,MuSK Myasthenia Gravis,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle-Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Generalized,Myasthenia Gravis, Ocular,Anti MuSK Myasthenia Gravis,Generalized Myasthenia Gravis,Muscle Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Anti-MuSK,Myasthenia Gravis, MuSK,Ocular Myasthenia Gravis
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D017246	Ophthalmoplegia, Chronic Progressive External	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	CPEO,Graefe Disease,Mitochondrial Ocular Myopathy,Ocular Muscular Dystrophy,Chronic Progressive External Ophthalmoplegia,Graefe's Disease,Ocular Myopathy of Von Graefe-Fuchs,Ophthalmoplegia, Progressive External,Progressive External Ophthalmoplegia,Disease, Graefe,Dystrophy, Ocular Muscular,External Ophthalmoplegia, Progressive,Muscular Dystrophies, Ocular,Muscular Dystrophy, Ocular,Myopathy, Mitochondrial Ocular,Ocular Muscular Dystrophies,Ocular Myopathy of Von Graefe Fuchs,Ocular Myopathy, Mitochondrial