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Emery-Dreifuss-Muskeldystrophie

Klinische Variabilität und genetische Heterogenität

Emery-Dreifuss muscular dystrophy

Clinical variability and genetic heterogeneity

Zusammenfassung

Die Emery-Dreifuss-Muskeldystrophie (EDMD) ist eine seltene neuromuskuläre Erkrankung, die durch frühe Kontrakturen, eine langsam progrediente Muskelschwäche und lebensbedrohliche Herzrhythmusstörungen gekennzeichnet ist. Sowohl klinisch als auch genetisch findet man eine große intra- und interfamiliäre Variabilität. Genetisch lassen sich X-chromosomal rezessive (EMD1), autosomal-dominante (EMD2) und autosomal-rezessive (EMD3) Formen unterscheiden, die mit Mutationen in den Genen STA, LMNA, SYNE1, SYNE2 und FHL1 assoziiert sind. Nur bei etwa 46% nicht miteinander verwandter EDMD-Patienten findet man Mutationen in diesen Genen, sodass mit einer weiteren genetischen Heterogenität der EDMD zu rechnen ist.

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare neuromuscular disorder characterized by early contractures, slowly progressive muscular weakness, and life-threatening heart conduction disturbances that can develop into a cardiomyopathy. There is wide intrafamilial and interfamilial clinical variability. Genetically, X-linked recessive (EMD1), autosomal dominant (EMD2), and autosomal recessive (EMD3) forms can be distinguished, which are associated with mutations in the STA, LMNA, SYNE1, SYNE2, and FHL1 genes. Only approximately 46% of unrelated EDMD patients have a mutation in the genes mentioned above, pointing to further genetic heterogeneity in EDMD.

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Correspondence to M. Wehnert.

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Wehnert, M. Emery-Dreifuss-Muskeldystrophie. medgen 21, 343–348 (2009). https://doi.org/10.1007/s11825-009-0173-8

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Schlüsselwörter

  • Emery-Dreifuss-Muskeldystrophie
  • Erbliche neuromuskuläre Erkrankungen
  • Klinische Variabilität
  • Genetische Variabilität
  • Genetische Heterogenität

Keywords

  • Emery-Dreifuss muscular dystrophy
  • Inherited neuromuscular disorders
  • Clinical variability
  • Genetic variability
  • Genetic heterogeneity