Summary
A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens. Myopathic patterns with various histological changes in muscle biopsy specimens were seen in all eight reported cases of the rigid spine syndrome, but there are no characteristic histological findings in the rigid spine syndrome.
Zusammenfassung
Ein Fall einer sporadischen Form der Myopathien mit frühzeitigen Kontrakturen, „rigid spine syndrome“ wurde bemerkt. Der Erkrankungsbeginn lag bei dem männlichen Patient ohne Familiengeschichte in der ersten Lebensdekade. Das charakteristische Krankheitsbild besteht aus der Hemmung der Flexion des Halses und der Rumpfbewegung, den Gelenkkontrakturen, der Normalintelligenz und dem Fehlen von Herzrhythmusstörungen mit relativ langsamer Progression der Muskelschwächen und-atrophien. Die elektromyographischen und histologisch-enzymhistochemischen Untersuchungen zeigten einen myopathischen Krankheitsprozeß an. Die Aktivität der Serum-CPK war erhöht.
Die klinische Symptomatik der Form „rigid spine syndrome“ erlaubt eine sichere differentialdiagnostische Abgrenzung von anderen Myopathien, aber die Form „rigid spine syndrome“ konnte durch die enzymhistochemische und ultrastrukturelle Untersuchung nicht charakterisiert werden.
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This study was supported by a grant from the Ministry of Health and Welfare
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Goto, I., Muraoka, S., Fujii, N. et al. Rigid spine syndrome: Clinical and histological problems. J Neurol 226, 143–148 (1981). https://doi.org/10.1007/BF00313443
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DOI: https://doi.org/10.1007/BF00313443