Miopatia steroidea-indotta

Yu-Wai-Man et al. (2010) reported the results of a large multicenter study of 104 patients from 45 families with OPA1 mutations, including 60 new cases. Extraocular neurologic complications were common, and affected up to 20% of all mutation carriers. The most prominent manifestation after optic neuropathy (%) was bilateral sensorineural deafness (%) beginning in late childhood and early adulthood, followed by a combination of ataxia (%), myopathy (%), peripheral neuropathy (%), and progressive external ophthalmoplegia (%). These additional features became manifest from the third decade of life onwards. Spastic paraparesis was reported in 2 families, and a multiple sclerosis-like disorder was reported in 2 families, including the previously reported patient of Verny et al. (2008).

Miopatia steroidea-indotta

miopatia steroidea-indotta


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