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Proximal myotonic myopathy

ORPHA:606· ICD-10 G71.1

Definition

A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Elderly