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Troyer syndrome

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A very rare disorder with onset in childhood, marked by dysarthria and muscle wasting, mainly involving the thenar, hypothenar, and dorsal interosseous muscles; followed by spasticity and contractures of the lower limbs which makes it impossible for the affected persons to walk; drooling, and mild cerebellar signs. The disease was first observed in an Amish group in Ohia and named for four patients. Inheritance is autosomal recessive.

Troyer is the Amish (USA) family in which the disease was first diagnosed.

We thank Henry Troyer for information submitted.


  • P. O. Kwiterovich, H. E. Cross and V. A. McKusick:
    Mongolism in an inbred population.
    Bulletin of the Johns Hopkins Hospital, Baltimore. 1966, 119: 268-275.
  • V. A. McKusick and H. E. Cross:
    Ataxia-telangiectasia and Swiss-type agammaglobulinemia: two genetic disorders of the immune mechanism in related Amish.
    Journal of the American Medical Association, Chicago, 1966, 195: 739-745.
  • H. E. Cross and V. A. McKusick:
    The Troyer syndrome: A recessive form of spastic paraplegia with distal muscle wasting.
    Archives of Neurology, Chicago, 1967, 16: 473-85
  • V. A. McKusick, W. B. Bias, and H. E. Cross:
    Blood groups in two Old Order Amish demes.
    (Abstract) Proceedings of the Third International Congress of Human Genetics, 1966. p. 24.
  • H. E. Cross and V. A. McKusick:
    The Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances.
    Archives of Neurology, Chicago, 1967, 16: 1-13.
  • H. E. Cross, V. A. McKusick and W. Breen:
    A new oculocerebral syndrome with hypopigmentation.
    Journal of Pediatrics, St. Louis, 1967, 70: 398-406,
  • H. E. Cross, V. A. McKusick:
    The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting.
    Archives of Neurology, Chicago, 1967, 16: 473-485.
  • H. E. Cross and V. A. McKusick:
    A survey of neurological disorders in a genetic isolate.
    Neurology, Cleveland, Ohio, 1967, 17: 743.
  • H. E. Cross, E. E. Kennel, A. M. Lilienfeld, and V. A. McKusick:
    Cancer of the cervix in the Amish.
    Transactions of the Association of American Physicians, Philadelphia, 1967, 80: 133-141.
  • H. E. Cross, C. S. Hollander, D. L. Rimoin, and V. A. McKusick:
    Familial athyreotic cretinism accompanied by muscular hypertrophy.
    Pediatrics, Evanston, Illinois, 1968, 41: 413-420.
  • H. E. Cross, D. B. Lerberg, and V. A. McKusick:
    Type II syndactyly.
    American Journal of Human Genetics, Chicago, 1968, 20: 368-380.
  • V. A. McKusick. and H. E. Cross:
    Genealogical linkage of records in two isolate populations.
    In Record Linkage in Medicine (Proc. of the Int. Symp. July l967). E. & S. Livingstone Ltd., 1968, pp. 264-270.
  • H. E. Cross and V. A. McKusick:
    Amish demography.
    Social Biology, Chicago, 1970, 17: 83-101.

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