<症例>Hereditary Proximal Spinal Muscular Atrophy (Kugelberg-Welander病)の1例

概要

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A case of hereditary proximal spinal muscular atrophy (Kugelberg-Welander disease) was described. The patient was a 9 year old boy, and his symptoms with atrophy and weakness of the proximal limb muscles began at the age of one year. In the laboratory examination, serum creatine and serum creatinine phosphokinase activity were elevated. although the elevation of serum aldorase activity was not detected. Urine excretion of creatine was increased and creatinine was slightly decreased. Electromyogram showed decrease of NMU and presence of polyphasic giant spike discharge in affected muscles. The muscle fiber degeneration seen in the biopsied specimen had the characteristic of both myogenic and neurogenic origins resembled those were described by other authors. In addition to those findings, the cylindrical laminated body was detected in the electron microscopy.
近畿大学の論文
1979-12-25