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Duchenne-Griesinger disease

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Condition characterized by weakness and pseudohypertrophy of the affected muscles. The disease begins in childhood, usually between 2 and 6 years, is progressive, and affects the shoulder and pelvic girdle muscles. Waddling gait, frequent falling, clumsiness and Gower’s manoeuvre to arise when lying on the floor, contractures develop. Frequent respiratory infections. Usually patients become incapacitated and are confined to wheelchair by adolescent age. Etiology Unknown. Sex-linked recessive inheritance. Affects only males, with an occurrence of 1 of 4800 boys born (see also Duchenne’s dystrophy in females). However, girls with Turner’s syndrome may acquire the disease. Death usually occurs at an early age, few patients survive past the second decade of life. A clinically similar autosomal recessive disease affecting both sexes equally occurs in the Mediterranean countries.

The British neurologist Sir William Richard Gowers (1845-1915) in 1879 recognised that only boys are affected, and that the disease is transmitted through healthy mothers to their sons. The German neurologist Wilhelm Heinrich Erb in 1890/1891 presented an extensive description of the clinical picture and histopathological findings.


  • W. Griesinger:
    Über Muskelhypertrophie.
    Archiv der Heilkunde, Leipzig, 1865, 6: 1-13.
  • G. B. Duchenne:
    Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclérosique. Archives générales de médecine, Paris, 6 sér, 1868, 11: 5-25, 179-209, 305-321, 421-443, 552-588.
    English translation of first portion in Bick, Classics of orthopaedics, 72-75.
  • W. R. Gowers:
    Pseudo-hypertrophic muscular paralysis. London, 1879.

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