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A Case of Congenital Myopathy without Specific Features
Author(s) -
Tachi Nobutada,
Hosoya Shizue,
Watanabe Mutsuko,
Wakai Shuji,
Minami Ryoji
Publication year - 1987
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.1987.tb00345.x
Subject(s) - medicine , congenital myopathy , myopathy , atrophy , muscle biopsy , abnormality , biopsy , anatomy , pathology , psychiatry
We report a 4‐year‐6‐month‐old boy with congenital myopathy without specific features. He showed delayed motor milestones, gaining head control at four months, and walking without support at one year six months. He was not a floppy infant after birth. Physical examination disclosed a myopathic face and muscle atrophy, predominantly in the proximal muscles, particularly in the scapular and pelvic girdles. A proximal muscle biopsy showed a mild variation in fiber size without any specific structural abnormality. Fiber type analysis showed type 2B fiber smallness. We compare our case with previously reported cases of minimal change myopathy (congenital myopathy without specific features).