KEARNS SYNDROME
\kˈi͡ənz sˈɪndɹə͡ʊm], \kˈiənz sˈɪndɹəʊm], \k_ˈiə_n_z s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy (with conduction block), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
By DataStellar Co., Ltd
Word of the day
Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.