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 — Emery-Dreifuss Muscular Dystrophy — Emery Dreifuss Muscular Dystrophy — Emery-Dreifuss Syndrome — Emery Dreifuss Syndrome — Emery-Dreifuss Type Muscular Dystrophy — Muscular Dystrophy, Emery-Dreifuss Type — Autosomal Recessive Emery-Dreifuss Muscular Dystrophy — Autosomal Recessive Emery Dreifuss Muscular Dystrophy — Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive — Emery Dreifuss Muscular Dystrophy, Autosomal Recessive — Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive — Scapuloperoneal Muscular Dystrophy — Myosin Storage Myopathy — Myosin Storage Myopathies — Storage Myopathy, Myosin — Myopathy, Hyaline Body, Autosomal Dominant — Scapuloperoneal Myopathy, MYH7-Related — MYH7-Related Scapuloperoneal Myopathy — Myopathy, MYH7-Related Scapuloperoneal — Scapuloperoneal Myopathy, MYH7 Related — Muscular Dystrophy, Scapuloperoneal — Myopathy, Myosin Storage