INTRODUCTION: Chronic progressive external ophthalmoplegia is a common mitochondrial disease that shares clinical, enzymatic, and genetic features with other mitochondrial disorders. Effective treatment does not exist, and corrective surgery of the ptosis as a palliative measure is a treatment option. PATIENTS AND METHODS: This was a retrospective study of 10 years' duration gathering patients with the diagnosis. Information related to clinical features, ancillary tests, and genetic data was obtained from our patients. RESULTS: Six patients were identified with this disease, 5 of them women, aged 44 to 72 years. All patients presented with ptosis, and in 50% of the patients it was asymmetric. Half of the patients noted mild dysphagia for liquids. The CPK and acetylcholine receptor antibody levels were normal. Jitter was increased in half of the patients and ragged-red fibers were present in 5 of them. The most common enzyme alteration was the combined deficit of complexes I and IV. Familial forms were not found among our patients. The most common genetic anomaly was a single deletion in the mitochondrial DNA. CONCLUSION: Knowledge of this disorder enables us to avoid the use of drugs with significant side effects in cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases.
INTRODUCTION: Chronic progressive external ophthalmoplegia is a common mitochondrial disease that shares clinical, enzymatic, and genetic features with other mitochondrial disorders. Effective treatment does not exist, and corrective surgery of the ptosis as a palliative measure is a treatment option. PATIENTS AND METHODS: This was a retrospective study of 10 years' duration gathering patients with the diagnosis. Information related to clinical features, ancillary tests, and genetic data was obtained from our patients. RESULTS: Six patients were identified with this disease, 5 of them women, aged 44 to 72 years. All patients presented with ptosis, and in 50% of the patients it was asymmetric. Half of the patients noted mild dysphagia for liquids. The CPK and acetylcholine receptor antibody levels were normal. Jitter was increased in half of the patients and ragged-red fibers were present in 5 of them. The most common enzyme alteration was the combined deficit of complexes I and IV. Familial forms were not found among our patients. The most common genetic anomaly was a single deletion in the mitochondrial DNA. CONCLUSION: Knowledge of this disorder enables us to avoid the use of drugs with significant side effects in cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases.
Authors: Alejandro Horga; Robert D S Pitceathly; Julian C Blake; Catherine E Woodward; Pedro Zapater; Carl Fratter; Ese E Mudanohwo; Gordon T Plant; Henry Houlden; Mary G Sweeney; Michael G Hanna; Mary M Reilly Journal: Brain Date: 2014-10-03 Impact factor: 13.501
Authors: Mafalda Bacalhau; Marta Simões; Mariana C Rocha; Steven A Hardy; Amy E Vincent; João Durães; Maria C Macário; Maria João Santos; Olinda Rebelo; Carla Lopes; João Pratas; Cândida Mendes; Mónica Zuzarte; A Cristina Rego; Henrique Girão; Lee-Jun C Wong; Robert W Taylor; Manuela Grazina Journal: Neuromuscul Disord Date: 2017-11-23 Impact factor: 4.296