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Steinert myotonic dystrophy syndrome

Synonyms
Dystrophia myotonica type 1; Myotonic dystrophy type 1; STEINERT DISEASE; Steinert myotonic dystrophy; Steinert's disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Thomas D Bird
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Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DM, DM1, DM1PK, DMK, MDPK, MT-PK, DMPK
    Summary: DM1 protein kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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