Proximal myotonic myopathy (PROMM): a new syndrome with neurological, internal, orthopedical, and ophthalmological features

Proximal myotonic myopathy (PROMM) is a newly described multisystem disorde r of autosomal dominant inheritance, which is similar to but distinct from myotonic dystrophy. The diagnosis of PROMM may be difficult due to high phe notypic variability even within one family. This review provides a detailed description of this disorder pointing out major features as presented to n eurologists, internists, orthopedists and ophthalmologists, respectively. F urthermore, our own experience with PROMM in the South-East of Austria is s ummarized. Although no specific therapy of PROMM is available to date, a co rrect diagnosis is important for differential-diagnostic considerations. In addition, knowledge of the disease might avoid complications during anesth esia and facilitates genetic and professional counselling of individuals an d families.