ABSTRACT
PURPOSE: A common presentation of mitochondrial myopathies is chronic progressive external ophthalmoplegia (CPEO). Dysphagia is a complaint in about 50% of cases. METHOD: This investigation evaluated pharyngeal transit in patients with CPEO. Videofluoroscopic swallowing evaluation was performed with paste, liquid and solid boluses in 14 patients with CPEO and in 16 normal volunteers. RESULT: There was no difference between patients and volunteers in the duration of pharyngeal swallowing events with the liquid bolus. Compared to control participants, patients with CPEO had significantly shorter duration of pharyngeal transit for paste and solid boluses, of pharyngeal clearance for paste bolus, and of upper oesophageal sphincter transit for paste and solid boluses. Spontaneous multiple swallows and effortful swallows were performed by patients but not by the volunteers. CONCLUSION: It was concluded that patients with CPEO have shorter pharyngeal transit duration of paste and solid boluses than normal volunteers, which may be a consequence of a spontaneous smaller bolus volume in each swallow and/or effortful swallows.
Subject(s)
Deglutition Disorders/etiology , Ophthalmoplegia, Chronic Progressive External/complications , Adolescent , Adult , Deglutition/physiology , Female , Humans , Male , Middle Aged , Pharynx/physiology , Young AdultSubject(s)
Arginine/genetics , Cysteine/genetics , DNA-Directed DNA Polymerase/genetics , Mutation/genetics , Ophthalmoplegia, Chronic Progressive External/genetics , Adult , Brazil , Cardiomyopathies/complications , Cardiomyopathies/genetics , DNA Mutational Analysis , DNA Polymerase gamma , Depression/complications , Depression/genetics , Electromyography , Female , Gait Disorders, Neurologic/complications , Gait Disorders, Neurologic/genetics , Humans , Male , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Neural Conduction , Ophthalmoplegia, Chronic Progressive External/complications , Ophthalmoplegia, Chronic Progressive External/pathology , Parkinson Disease/complications , Parkinson Disease/genetics , Phenotype , Succinate Dehydrogenase/metabolismABSTRACT
Mitochondrial myopathy is a genetic disorder characterized by chronic progressive external ophthalmoplegia and upper eyelid, ptosis which occurs before 30 to 40 years of life. The authors reviewed the literature and reported two cases of reading diplopia in female patients.
Subject(s)
Blepharoptosis/etiology , Diplopia/etiology , Ophthalmoplegia, Chronic Progressive External/diagnosis , Adult , Biopsy , Female , Humans , Ophthalmoplegia, Chronic Progressive External/complicationsABSTRACT
Miopatia mitocondrial é um distúrbio genético caracterizado por oftalmoplegia externa crônica progressiva e ptose palpebral superior, apresentando-se a partir da 3ª e 4ª década de vida. Os autores revisaram a literatura e relataram 2 casos do sexo feminino com diplopia à leitura.