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- Vol.45 No.5
- CLINICA NEUROL, 45: 380－382, 2005
- Vol.45 No.5 contents
Brief Clinical Note
An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy
Kengo Fujita, M.D.1), Satoshi Nakano, M.D.1), Hiroyuki Yamamoto, M.D.2), Hisashi Ito, M.D.1), Hidefumi Ito, M.D.1), Youichi Goto, M.D.2) and Hirofumi Kusaka, M.D.1)
1)Department of Neurology, Kansai Medical University
2)Division of Cardiology and CCU, National Cardiovascular Center
A 30 year-old man with CFTD was reported. He had normal motor milestone during infancy but had been poor at sports. At 28, he experienced exertional and nocturnal dyspnea and had been diagnosed as having dilated cardiomyopathy. At 29, a cardiac pace-maker was implanted because of the complete atrio-ventricular block. Around that time, he began to notice limb muscle weakness. Examination at 30 showed mild diffuse muscle atrophy and weakness at the torso and limbs. No dysmorphic features or joint contractures were noted. His serum CK was normal. A histochemical study of his muscle biopsy showed type 1 fiber predominancy (64.6%) and that the mean diameter of type 1 fibers was smaller than that of type 2 by 14.6% (36.9 μm vs. 42.3 μm). Results of immunostaining of dystrophin, emerin, laminA/C, α, β, γ, δ-sarcoglycan or dysferlin were normal. He was diagnosed as having CFTD because there were no histochemical abnormalities which characterize other congenital myopathies except for the type 1 predominancy and atrophy.
(CLINICA NEUROL, 45: 380－382, 2005)
key words: Congenital fiber type disproportion, heart failure, congenital myopathy, dilated cardiomyopathy
(Received: 17-Jun-04)
