Benign familial disease with muscle mounding and rippling.
Four members of a family in three generations exhibited unusual clinical features of localised transient swelling of muscle induced by percussion (muscle mounding or myoedema) and were able, voluntarily, to induce rhythmic waves of contraction in certain muscles (muscle rippling or rolling). All had raised serum creatine kinase activity. Muscle biopsy in two members showed no specific abnormality. Experimental studies performed on excised intercostal muscle showed that abnormal "after-contractions" and increased sarcolemmal excitability could be demonstrated in vitro.
Burns
R J
RJ
Department of Neurology, Flinders Medical Centre, Australia.
Bretag
A H
AH
Blumbergs
P C
PC
Harbord
M G
MG
D000200:Action Potentials; D000328:Adult; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D066298:In Vitro Techniques; D007366:Intercostal Muscles / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009119:Muscle Contraction; D009132:Muscles / Q000503:physiopathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012508:Sarcolemma / Q000502:physiology
D003402:Creatine Kinase