Abstract
Myotonic dystrophy I is a multisystem disorder. Common manifestation is the chronic progressive muscle weakness which tends to involve the neck muscles, face and distal and proximal limb areas. Myotonia of grip and percussion is present early on and becomes less prominent as weakness ensues. Extra muscular manifestations are early cataracts and frontal balding, infertility, diabetes mellitus, sleep disturbances and cardiac arrhythmias. The diagnosis is achieved by family survey, characteristic electrophysiological findings and triplet repeat studies using TP-PCR or Southern blotting. Mexiletine and other membrane stabilisers can reduce myotonic symptoms, and cardiac evaluation and therapy are important. Long-term quality of life is compromised in the sufferers of myotonic dystrophy. Myotonic dystrophy 2 is less common, has a different genetic makeup and presents with proximal weakness and myotonia; extra muscular manifestations are not prominent.
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Khadilkar, S.V., Yadav, R.S., Patel, B.A. (2018). Myotonic Dystrophies. In: Neuromuscular Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-5361-0_18
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