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Myotonic dystrophy

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Myotonic dystrophy is the most common muscular dystrophy and is characterised by myotonia and muscular atrophy.

Inheritance is autosomal dominant. The incidence is 5 per 100 000 with onset between 15 and 40 years, although it may present as early as birth. The causal gene is on chromosome 19.

The disease is slowly progressive and is characterised by cataract formation, hypogonadism, frontal balding and cardiac disorders. There is weakness, wasting and myotonia of involved muscles. Wasting of the sternocleidomastoids produces the classical swan-necked appearance.

The condition reduces longevity.

Notes:

  • the prevalence of myotonic dystrophy varies with respect to different populations.

Reference:

  1. Vydra D. Myotonic Dystrophy. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.2023 Jun 26.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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