Myotonic dystrophy syndrome (myotonia atrophica syndrome; dystrophia myotonica; curschmann-steinert syndrome)

General: Rare autosomal dominant disease; onset about age 20 years; condition is worsened by administration of neostigmine (Prostigmin); associated with an unstable deoxyribonucleic acid (DNA) sequence composed of varying numbers of CTG triplet repeats (which allows a specific molecular test for this disorder).

Ocular: Mild ptosis (occasionally); myotonic cataract with small, dotlike subcapsular cortical opacities during early stage, with polychromatic properties on biomicroscopic examination; corneal epithelial dystrophy; loss of corneal sensitivity; tapetoretinal degeneration; macular red spot; macular degeneration; chorioretinitis; pilomatrixomas; ocular hypotony; pattern pigmentary changes; abnormal saccades.

Clinical: Progressive muscular atrophy with selection of certain muscles (mainly stern-ocleidomastoid, temporalis, dorsiflexor muscles of the ankle, anterior oblique); myotonia; bland facial expression; speech disturbance due to involvement of vocal cords and palatal muscles; dysphagia; endocrine disturbances.

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Kimizuka Y, et al. Retinal changes in myotonic dystrophy. Clinical and follow-up evaluation. Retina 1993; 13: 129-l35.

Koca MR, et al. Alterations of saccadic eye movements in myotonic dystrophy. Graefes Arch Clin Exp Ophthalmol 1992; 230:437-441.

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Reardon W, et al. Cataract and myotonic dystrophy: the role of molecular diagnosis. Br J Ophthalmol 1993; 77: 579-583.