Medizinische Universität Graz - Research portal
Selected Publication:
Auer-Grumbach, M; Hartung, HP.
Proximal myotonic myopathy (PROMM): a new syndrome with neurological, internal, orthopedical, and ophthalmological features
WIEN KLIN WOCHENSCHR 2001 113: 485-490.
Web of Science
- Leading authors Med Uni Graz
- Auer-Grumbach Michaela
- Altmetrics:
- Abstract:
- Proximal myotonic myopathy (PROMM) is a newly described multisystem disorder of autosomal dominant inheritance, which is similar to but distinct from myotonic dystrophy. The diagnosis of PROMM may be difficult due to high phenotypic variability even within one family. This review provides a detailed description of this disorder pointing out major features as presented to neurologists, internists, orthopedists and ophthalmologists, respectively. Furthermore, our own experience with PROMM in the South-East of Austria is summarized. Although no specific therapy of PROMM is available to date, a correct diagnosis is important for differential-diagnostic considerations. In addition, knowledge of the disease might avoid complications during anesthesia and facilitates genetic and professional counselling of individuals and families.
- Find related publications in this database (Keywords)
- myotonic dystrophy
- muscle pain
- myotonia
- proximal muscle weakness
- PROMM