En grupp ärftliga muskelsjukdomar som kliniskt kännetecknas av svaghet, hypotoni och uttalad hypoplasi hos proximala muskler, inklusive ansiktet. Muskelbiopsi avslöjar ett stort antal stavformade strukturer under muskelfibrernas plasmamembran. Sjukdomen är genetiskt heterogen och kan ibland visa sig hos vuxna.
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
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Myopathy, Rod — Myopathy, Rod-Body — Myopathy, Rod Body — Nemaline Body Disease — Nemaline Myopathies — Nemaline Rod Disease — Rod Body Disease — Rod Myopathy — Myopathies, Rod — Rod Myopathies — Rod-Body Myopathy — Myopathies, Rod-Body — Rod Body Myopathy — Rod-Body Myopathies — Myopathy, Nemaline — Nemaline Myopathy — Nemaline Myopathy, Autosomal Dominant — Autosomal Dominant Nemaline Myopathy — Nemaline Myopathy, Childhood Onset — Childhood Onset Nemaline Myopathy — Nemaline Myopathy, Late Onset — Late Onset Nemaline Myopathy — Adult Onset Nemaline Myopathy — Nemaline Myopathy, Adult Onset — Nemaline Myopathy, Autosomal Recessive — Autosomal Recessive Nemaline Myopathy