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Wohlfart-Kugelberg-Welander syndrome

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Hereditary juvenile spinal muscular atrophy, characterised by slowly progressive muscular weakness, due to degeneration of anterior horn cells. Onset is between the ages of 2 and 17 years. The early symptoms, consisting of atrophy and weakness of the proximal muscles of the extremities, mainly the legs, are followed by involvement of the muscles of the trunk and distal muscles of the extremities. Fasciculation and electromyographic disorders indicate lesions of the spinal motor neurons. Both sexes affected, but more severe in males than females. Inheritance is mostly autosomal recessive, but some families with autosomal dominant inheritance have been described, very rarely, X chromosomal. Some families also have Werdnig-Hoffman disease and so the conditions may be related. Often confused with muscular dystrophy.


  • A. Strümpell:
    Über spinale, progressive Muskelatrophie und amyotrophische Seitenstrangsklerose.
    Deutsches Archiv für klinische Medicin, Leipzig, 1888, 42: 230-260.
  • G. Wohlfart:
    Zwei Fälle von Dystrophia musculorum progressiva mit fibrillären Zuckungen und atypischem Muskelbefund.
    Deutsche Zeitschrift für Nervenheilkunde, 1942, 153: 189-204.
  • G. Wohlfart, J. Fex, S. Eliasson:
    Hereditary proximal spinal muscular atrophy: a clinical entity stimulating progressive myscular dystrophy.
    Acta Psychiatrica et Neurologica Scandinavica, Copenhagen; 1955, 30: 395-406.
  • E. Kugelberg, L. Welander:
    Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.
    Archives of Neurology, Chicago, 1956, 75: 500.

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