Table 4. [Recommended Evaluations Following Initial Diagnosis in Children with Myotonic Dystrophy Type 1]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Baseline neurologic eval
Other	Developmental assessment	To incl assessment of motor, cognitive, & psychosocial function
Consultation w/clinical geneticist &/or genetic counselor
Eyes	Ophthalmologic eval	By ophthalmologist familiar w/iridescent posterior subcapsular cataract characteristic of DM1
Cardiovascular	EKG	To evaluate syncope, palpitations, & other symptoms of potential cardiac origin
Cardiology consultation
Respiratory	Pulmonary function tests	Pneumonia risk
Endocrine	Fasting blood glucose or HbA1c

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.