Other Publications

*NEW* The Myotonic Dystrophy Foundation (MDF) facilitated the translation of Dr. Hans Steinert’s initial descriptions of patients with myotonic dystrophy. This work was originally published in Steinert’s native language German. Click here to read the Steinert Translation in English! The pdf contains the translation, designated as draft as figures, legends, and references are not translated and the language itself has not been “modernized”, followed by the original article in German.

*NEW* ACMG TECHNICAL STANDARD: Myotonic dystrophy type 1 testing, 2024 Revision: The American College of Medical Genetics’ (ACMG) Technical standards are educational resources for clinical laboratory geneticists. This DM1 guideline updates the standards for myotonic dystrophy type 1 (DM1) originally published in 2009 and reaffirmed in 2015. Click here to read a summary of this ACMG Technical Standard and the updates made in the 2024 revision.

The Facts: Myotonic Dystrophy, by Prof. Peter Harper, published by Oxford University Press, 2002. This hundred-page book is written in easy-to-understand language for families affected by myotonic dystrophy. It’s a good place to begin educating yourself. Available online at Oxford University Press or Amazon.com.

  • Les Faits (version française / French version)
  • I Fatti (versione italiana / Italian version)
  • Os Factos (versão em português / Portuguese version)
  • Los Hechos (versión española / Spanish version)

Myotonic Dystrophy – Present Management, Future Therapy, edited by Prof. Peter Harper, published by Oxford University Press, 2004. This 240-page book written by DM experts from around the world is geared to medical professionals. It includes highly technical descriptions and is a good book to take to medical appointments as specific symptoms arise.

Myotonic Dystrophy, 3rd Edition, by Prof. Peter Harper, published by W.B. Saunders, 2001. This 400-page book on DM is written for medical professionals. The descriptions are highly technical.

Genetic Instabilities and Neurological Diseases, 2nd ed., by Robert D. Wells and Tetsuo Ashizawa, published by Elsevier Academic Press, 2006. This book is written for medical professionals and the descriptions are highly technical.