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Curschmann-Batten-Steinert syndrome

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Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. The myotonic dystrophy involves both smooth and striated muscle and may present with limb weakness. There may be gastrointestinal problems such as dysphagia, anosphinctal abnormalities and poor gall bladder contractibility and cholelithiasis as well as anicteric cholestasis. Cardiac involvement usually is due to abnormalities of the Bundle of His and Purkinje but cardiac muscular dystrophy can cause supra ventricular and ventricular arrythmias. Aspiration pneumonia is a complication. Very lon list of symptoms. Appear slightly more frequently in male between 20 and 30 years of age. The syndrome is transmitted as an autosomal dominant trait with complete penetrance and variation in expression,


  • H. Curschmann:
    Über partielle Myotonie unter dem Bilde einer Beschäftigungsneurose und Lähmung.
    Berliner klinische Wochenschrift, 1905, 42: 1175-1185. Über familiäre atrophische Myotonie.
    Deutsche Zeitschrift für Nervenheilkunde, 1912, 45: 161-202.
  • F. E. Batten, H. P. Gibb:
    Myotonia atrophica. Brain, Oxford, 1909, 32: 187-205.
  • H. H. W. Steinert:
    Myopathologische Beiträge. I. Über das klinische und anatomische Bilde des Muskelschwunds des Myotoniker.
    Deutsche Zeitschrift für Nervenheilkunde, 1909, 37: 58-104.
  • D. B. Dzhabarov:
    [Vegetative and trophic disorders and the functional status of the sympatho-adrenal system in Rossolimo-Curschmann-Batten-Steinert myotonic dystrophy].
    Zhurnal Nevropatologii i Psikhiatrii imeni S.S.Korsakova, Moscow, 1986, 86(3): 333-335.

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