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Histopathological Study of the Biopsied Muscles from Juvenile Patients with Congenital Myotonic Dystrophy
Author(s) -
Wakai Shuji,
Kameda Keiji,
Okabe Minoru,
Nagaoka Masato,
Minami Ryoji,
Tachi Nobutada
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb02490.x
Subject(s) - medicine , myotonic dystrophy , pathological , histopathology , atrophy , pathology , juvenile , muscular dystrophy , anatomy , biology , genetics
Histopathology and histochemistry were studied in biopsied muscles from eight patients with the congenital form of myotonic dystrophy (congenital MyD) and one patient with the adult form (adult MyD). In the muscle pathology of the four patients aged between 5 and 11 years with congenital MyD, there was no immaturity of the fibers and the histological alterations were minimal. The pathological findings of the adult patient with congenital MyD resembled those of adult MyD. The immature condition of the musculature observed during the early infantile period, therefore, may once improve with motor development during childhood and, after that, the muscle fibers may degenerate in a similar manner to that seen in adult MyD. Two patients with marked talipes equinovarus displayed grouped atrophy. Small angular fibers and pyknotic nuclear clumps were observed in five patients. These findings suggest that some neurogenic factor might be involved in the muscular changes in this disorder.