nemaline myopathy (redirected from Myopathies, nemaline)

nem·a·line myopathy (nm-ln, -ln)

n.

Congenital, nonprogressive muscle weakness most evident in the proximal muscles, with characteristic threadlike rods seen in some muscle cells.

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nemaline myopathy nemaline, Greek, rod-shaped A benign AD muscular dystrophy affecting 'floppy infants', characterized by non-progressive muscular weakness, ↓ deep tendon reflexes and hypotonicity, causing skeletal abnormalities, a typical facies–oval face, micrognathia, malocclusion, and a high arched palate, kyphoscoliosis, dislocation of hips and pes cavus; NM is compatible with a normal life span; 'nemaline' refers to the ultrastructural finding of rod-like Z-band material in both type I and type II myocytes. Cf Central core myopathy, Floppy infant syndrome.