Thirteen adult mutant (LWC strain) Japanese quails (Coturnix coturnix
japonica), between the ages of 8 and 60 weeks were examined for a prog
ressive muscular disorder. The disorder, inherited as an autosomal dom
inant trait, was clinically apparent as early as 28 days of age; it wa
s characterized by generalized myotonia, muscle stiffness, and muscle
weakness. Affected birds were identified by their inability to lift th
eir wings vertically upward and by their inability to right themselves
when placed on their dorsum. Electromyographic studies in two mutant
quails showed high-frequency repetitive discharges comparable to those
of myotonic runs. These discharges persisted after nerve resection. T
he distinctive histopathologic changes in the various muscles examined
were ring fibers, sarcoplasmic masses, and internal migration of sarc
olemmal nuclei. A slight decrease in the size of type IIB muscle fiber
s and a slight increase in the size of type IIA fibers were observed i
n the M. pectoralis thoracicus of affected quails. In older affected b
irds, inter- and intrafascicular fatty infiltration with replacement o
f type IIB fibers by fat cells was seen in the pectoral muscles. Singl
e fiber necrosis, nonspecific lymphorrages, and variations in the musc
le fiber size and shape were also noted. The typical muscle lesions an
d multisystem involvement, which was manifested by testicular degenera
tion and atrophy in the male LWC specimens and bilateral lenticular ca
taracts in 6 of 13 affected mutant quails, suggest resemblance of this
new inherited muscular disorder to myotonic dystrophy in man.