Medical condition/treatment
Myotonic dystrophy (DM)
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Muscles and joints
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Myotonic dystrophy (DM) is a genetic disorder that causes muscle weakness, myotonia (delayed relaxation of muscles after contraction), and a variety of other symptoms that can affect various organ systems. There are different types of DM, each affecting different genes.
Causes/Description:
Myotonic dystrophy is a genetic disorder caused by mutations in the DMPK gene. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.
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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Psychosoziale Unterstützung, Medikamentöse Therapie, Genetische Beratung, Kardiologische Betreuung
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Myotonic dystrophy is caused by mutations in the DMPK gene, which is important for the production of a protein called dystrophia myotonica protein kinase. Mutations result in toxicity to the protein, which can affect various tissues in the body.
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- Medical monitoring and treatment of concomitant illnesses<br>- Physiotherapy to maintain mobility and muscle function<br>- Respiratory support if necessary<br>- Psychosocial care and support for those affected and families
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Myotonic dystrophy was first described in 1909 by Hans Gustav Wilhelm Steinert. It is a genetic disease caused by mutations in the DMPK gene or CNBP gene. Main features are muscle weakness, myotonia and multisystem symptoms. Treatment focuses on managing symptoms and supporting quality of life.