En icke enhetlig grupp ärftliga muskeldystrofier utan inblandning av nervsystemet. Sjukdomstillståndet kännetecknas av muskelatrofi, muskelsvaghet, sammandragning av armbågen, hälsenan och de bakre nackmusklerna, med eller utan hjärtpåverkan. Det finns flera ärftlighetsmönster, som t ex X-kopplade, autosomalt dominanta och autosomalt recessiva genmutationer.
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.
Emery-Dreifuss syndrom — Scapuloperoneal muskeldystrofi
Muscular Dystrophy, Emery Dreifuss — Muscular Dystrophy, Emery-Dreifuss Type — Emery-Dreifuss Type Muscular Dystrophy — Emery-Dreifuss Muscular Dystrophy — Emery Dreifuss Muscular Dystrophy — Emery-Dreifuss Syndrome — Emery Dreifuss Syndrome — Scapuloperoneal Muscular Dystrophy — Scapuloperoneal Myopathy, MYH7-Related — MYH7-Related Scapuloperoneal Myopathy — Myopathy, MYH7-Related Scapuloperoneal — Scapuloperoneal Myopathy, MYH7 Related — Muscular Dystrophy, Scapuloperoneal — Autosomal Recessive Emery-Dreifuss Muscular Dystrophy — Autosomal Recessive Emery Dreifuss Muscular Dystrophy — Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive — Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive — Emery Dreifuss Muscular Dystrophy, Autosomal Recessive