Kongenitale Muskeldystrophie Typ Ullrich

Klassifikation nach ICD-10
G71.2 Angeborene Myopathien
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ICD-10 online (WHO-Version 2019)

Die Kongenitale Muskeldystrophie Typ Ullrich ist eine sehr seltene angeborene Form der Muskeldystrophie mit den Hauptmerkmalen früher Krankheitsbeginn, allgemeine, langsam zunehmende Muskelschwäche, Gelenkkontrakturen, vermehrte Beweglichkeit der distalen Gelenke und normale Intelligenz.[1]

Synonyme sind: Ullrich-Myopathie; Muskeldystrophie, sklero-atonische; Ullrich-CMD (UCMD)

Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung aus dem Jahre 1930 durch Otto Ullrich.[2]

Verbreitung

Die Häufigkeit dieser Form einer Kongenitalen Muskeldystrophie wird mit 1 bis 9 zu 1.000.000 angegeben, bislang wurde über weniger als 50 Betroffene berichtet. Die Vererbung erfolgt autosomal-dominant oder autosomal-rezessiv.[1]

Ursache

Je nach zugrunde liegender Mutation können folgende Typen unterschieden werden:

Klinische Erscheinungen

Klinische Kriterien sind:[1]

Diagnose

Die Diagnose erfolgt durch Muskelbiopsie sowie durch humangenetischen Nachweis der Mutation. Ein Nachweis pränatal ist möglich.

Differentialdiagnose

Abzugrenzen sind:[1]

Einzelnachweise

  1. ↑ a b c d Eintrag zu Muskeldystrophie, kongenitale, Typ Ullrich. In: Orphanet (Datenbank für seltene Krankheiten)
  2. ↑ Otto Ullrich: Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. In: Zeitschrift für die gesamte Neurologie und Psychiatrie, Band 126 (1930), Seite 171, ISSN 0940-1334, doi:10.1007/BF02864097.
  3. ↑ Ullrich congenital muscular dystrophy 2. In: Online Mendelian Inheritance in Man. (englisch)

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