Wydanie 4/2015
str. 65

Dystrofia miotoniczna typu 1. (choroba Crushmanna-Steinerta)

Myotonic Dystrophy Type 1. (Steinert Disease)

Aleksandra Kowalska-Ćwik1, Mariusz Kęcik2, Jan Kasprzak1, Paweł Zawadzki2, Mateusz Kęcik3

1 Klinika Okulistyki I Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Dariusz Kęcik
2 Klinika Chirurgii Czaszkowo-Szczękowo-Twarzowej, Chirurgii Jamy Ustnej i Implantologii Warszawskiego Uniwersytetu Medycznego
Kierownik: dr n. med. Paweł Zawadzki
3 ProFeelMed w Warszawie

Summary: Myotonic dystrophy type 1. (DM1, Steinert disease) is a multisystemic disorder that affects skeletal and weakens muscles as well as the eye, heart, endocrine system and central nervous system. Myotonic dystrophy type 1. is an autosomal-dominant genetic disorder caused by the expansion of the CTG triplet repeat in the 3 untranslated regions of the myotonic dystrophy protein kinase gene located within chromosome band 19q13.3 and encoding the myotonic dystrophy protein kinase.
Myotonic dystrophy type 1. is the most common form of muscular dystrophy in adults with probability of 1: 8000. Myotonic dystrophy type 1. is sub-divided into four clinical subgroups. There are a wide range of symptoms, from mild like baldness and cataracts to very severe including muscle weakness and cardiac conduction defects which may cause sudden cardiac death.
The severity of the disease and is associated with the repeat lengths sequence. Myotonic dystrophy type 1. could lead to many types of ocular defects. One of the most prominent features of the eye is multicolored iridescent cataracts. Initially it is seen as a scattering of punctate multicolored opacities located in the posterior lens capsule. It can be often the first, or in some cases the only sign of the disease in younger people who do not have the muscular symptoms or who carry a permutation size (CTG) repeat allele. During diagnosis, the following examinations can be helpful: electromyography, biopsy of muscle, level of producing kinase, genetic and pre-natal tests as well as ophthalmology and cardiology examination.

Słowa kluczowe: dystrofia miotoniczna typu 1. (DM1, choroba Steinerta), gen DMPK, miotonia.

Keywords: Myotonic dystrophy type 1. (DM1, Steinert’s disease), DMPK gene, myotonia.