Steinert myotonic dystrophy
Synonyms: Myotonic dystrophy type 1 | Steinert disease
A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness myotonia early onset cataracts (before age 50) and systemic manifestations (cerebral endocrine cardiac gastrointestinal tract uterus skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild late-onset disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Steinert myotonic dystrophy?
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