Arthrogryposis Multiplex Congenita in Twins

Occurrence of familial spastic paraplegia in only one of monozygous twins.

“…The genetic predisposition does not therefore always manifest itself unless triggered by environmental factors. In neurological disorders descriptions of discordance in monozygous twins have largely been confined to such heterogeneous and multifactorial deficits as epilepsy, cerebral palsy, arthrogryposis multiplex congenita (Hillman and Johnson, 1952), and micrencephaly, which can be explained perhaps as disorders of development (Parker, 1964). In hereditodegenerative disorders due to single gene defects discordance in monozygotic twins has been described in Huntington's chorea (Rosenthal, 1927), although monozygosity was not confirmed by genetic techniques.…”

Part II. Amyoplasia: Twinning in amyoplasia—a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins

“…Numberous reports of arthrogryposis in one or both MZ and DZ twins have been published (Table 111) [Bearan, 1948;Bharucha et al, 1972;Cohen et al, 1978;Fisher et al, 1970;Frischknecht et al, 1960;Heijbroek, 1941;Hillman and Johnson, 1952;Howard, 'Bharucha et al, 1972;Frishchknecht et al, 1960;Lipton and Morgenstern, 1955;Swinyard, 1961. 1907; Kite, 1955;Lipton and Morgenstern, 1955;Mead et al, 1958;Oleaga and Muguruza, 1950;Pedreira and Long, 1971;Swinyard, 19611.…”

“…Of the 14 reports (18 cases) that cite twins with arthrogryposis, only six give a clear clinical description of amyoplasia [Bearan, 1948;Cohen et al, 1978;Heijbroek, 1941;Hillman and Johnson, 1952;Howard, 19071 and only four mention zygosity [Cohen et al, 1978;Heijbroek, 1941;Hillman and Johnson, 1952 (2 cases)]. The basis of determined monozygosity in the cases of Hillman and Johnson [1952] where one twin of each pair had contractures was by MN and Rh blood groups.…”

“…The basis of determined monozygosity in the cases of Hillman and Johnson [1952] where one twin of each pair had contractures was by MN and Rh blood groups. The twins reported by Heijbroek [1941] are both male and were said to have an exactly identical physical appearance except for contractures.…”

Central core disease in one of identical twins.

“…Although there have been cases of congenital arthrogryposis occurring in either both or one of identical twins (Hillman and Johnson, 1952;Lipton and Morgenstern, 1955) in none of the cases of arthrogryposis multiplex congenita associated with monozygotic twinning have muscle biopsies been done to delineate specific pathology. This report will document the existence of central core disease in one of monozygotic twins, establish the identical nature of the twinning, and speculate on the aetiology of the arthrogryposis associated with the central core disease.…”