RESUMO
OBJECTIVE: Spinocerebellar ataxia (SCA) leads to abnormal ocular motility and alignment. The objective of this study was to quantitatively assess vision, ocular motility and alignment and its impact on vision related quality of life (VRQOL) in SCA. METHODS: Nineteen genetically diagnosed SCA subjects (11 SCA type 3, 3 SCA type 1 and 5 SCA type 6) participated at two university centers. All subjects completed the National Eye Institute Visual Function Questionnaire (NEI-VFQ), 10-Item Neuro-Ophthalmic Supplement (NOS), scale for assessment and rating of ataxia (SARA) and ophthalmic examination. Twelve subjects seen at one of the 2 sites underwent quantitative ocular motility and alignment assessment. RESULTS: Composite scores for NEI-VFQ (mean 76.3±13) and NOS (mean 65.2±16.8) were significantly decreased in SCA subjects. NEI-VFQ subscale scores were decreased for general, near, distance and peripheral vision and driving. SCA patients had decreased low contrast sensitivity, stereoacuity and multiple ocular motility defects which included gaze limitation (9/12), nystagmus (5/12), distance esophoria (11/12), near exophoria (12/12) and receded near point of convergence. A significant negative correlation was noted between composite scores and distance convergence fusional amplitude. CONCLUSION: VRQOL is significantly decreased in SCA compared to normal population. All SCA patients should be screened for visual disability and referred for neuro-ophthalmic assessment promptly.
Assuntos
Transtornos da Motilidade Ocular/fisiopatologia , Qualidade de Vida , Ataxias Espinocerebelares/fisiopatologia , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , Adulto , Idoso , Sensibilidades de Contraste/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/etiologia , Ataxias Espinocerebelares/complicações , Transtornos da Visão/etiologiaRESUMO
Familial occurrence of myasthenia gravis is uncommon and reports of maternal transmission of muscle-specific tyrosine kinase (MuSK) antibody myasthenia are rarer still. We report two families with maternal transmission of MuSK antibody myasthenia gravis to the offspring by different mechanisms. The first family demonstrates transmission genetic susceptibility of inheriting myasthenia gravis from MuSK antibodies, whereas the second one demonstrates transplacental transmission of MuSK antibodies at birth.