MYH7-related skeletal myopathy
MYH7-related skeletal myopathy
Definition
A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
Also known as distal myopathy type 1, Laing distal myopathy, MPD1, MYH7-related skeletal myopathy, myopathy distal, type 1, myopathy, distal, 1, myopathy, distal, early-onset, autosomal dominant, myopathy, distal, type 1, myopathy, late distal hereditary — per MONDO