Abstract
Myotonic dystrophy (DM) is a well-known multisystem disorder with dominant inheritance. Proximal myotonic myopathy (PROMM) has been defined only recently, it is rather similar to but distinct from DM. Molecular genetic testing of the CTG trinucleotide repeat expansion is a reliable diagnostic method in DM. In PROMM these CTG repeats are normal, and no genetic test is so far available. Comparing the phenotypes of DM and PROMM, an important point seems to be that PROMM is a more benign disorder. There are almost no obvious mental changes in PROMM patients; premature death is extremely rare; anticipation appears to be present but to a milder degree; a severe congenital type of PROMM apparently is very rare if it occurs at all. On the other hand, at least in the German population, the frequency of PROMM may be almost equal to that of DM.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
