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Myotonic dystrophy type 2

MONDO:0011266

Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.

Also known as: CNBP myotonic dystrophy, myotonic dystrophy caused by mutation in CNBP, myotonic dystrophy type 2, proximal myotonic dystrophy, proximal myotonic myopathy, ricker disease, ricker syndrome, DM2

16 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Musculoskeletal system disorder (207) Hereditary disease (176) Neuromuscular disease (106) Muscular dystrophy (72) Muscle tissue disorder (56) Myotonic dystrophy (55) Syndromic disease (25) Human disease (14)
Trials to join now! 13 Not yet recruiting 1 Not yet finished but already full! 2
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  • Can watching the course of myotonic dystrophy unlock better care?

    Knowledge-focused Not yet recruiting

    This study follows 100 adults with myotonic dystrophy (types 1 or 2) for two years to understand how muscle stiffness, daily function, and heart health change over time. Researchers will look back at up to 18 months of past medical records and then track participants with clinic …

    Sponsor: Lupin Ltd. • Aim: Knowledge-focused

    Last updated Jul 30, 2026 00:00 UTC

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