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  • Title: [Rigid-spine syndrome in a female patient (author's transl)].
    Author: Mussini JM, Mathé JF, Prost A, Gray F, Labat JJ, Fève JR.
    Journal: Rev Neurol (Paris); 1982; 138(1):25-37. PubMed ID: 7100735.
    Abstract:
    A case of rigid spine syndrome in a woman is reported. There were a diffuse myopathic process, with atrophy and mild weakness not involving the face and a major rigidity of the spine. Contractures were present as well as a pure restrictive respiratory failure. Heart-rythm disorders and prolapse of the mitral valve were present. Histological features of a deltoid muscle biopsy were slight necrosis, lack of fibrosis and major disproportion in fiber-types. There were a high rate of fiber I and absence of fiber IIB. This case was similar to others described as Dubowitz's rigid spine syndrome. The histological features belonged to the second neuropathological group of cases, with disproportion in fiber-types. The rigid spine syndrome may be considered as a clinically definite disease and distinguished from other myopathies with orthopedic deformations. It should not be confused with arthrogryposis multiplex. The disease is probably autosomic recessive.
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