Suzuki Y, Nonaka I, Akiyama C, Kuroiwa Y
Department of Ultrastructural Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
Rinsho Shinkeigaku. 1998 Sep;38(9):791-5.
We examined 22 biopsied muscles from adult patients who had the histopathological characteristics of nemaline myopathy. In the first group, 13 patients had muscle weakness and/or skeletal abnormalities, such as high-arched palate, pes cavus and scoliosis which are often accompanied with the congenital nemaline myopathy. Their appropriate diagnosis had never been made until muscle biopsy was done, because of benign clinical course. In the second group, the symptoms of nine patients became manifest in adulthood and failed to show typical skeletal abnormalities. However, six muscle biopsies showed the histopathologic characteristics of congenital nemaline myopathy; abnormal fiber type distribution including type 1 fiber predominancy, type 1 fiber atrophy and type 2B fiber deficiency. Three patients remained in good health until adulthood when they developed muscle weakness with pathologic findings of nemaline myopathy. Accordingly, nemaline myopathy in adulthood can be categorized into three forms; the first two forms have clinical and pathologic evidence of the congenital benign form, whereas the symptoms are too mild to be noticed. The third form is not a hereditary disorder which may result from autoimmune pathophysiology.
我们检查了22例具有杆状体肌病组织病理学特征的成年患者的活检肌肉。在第一组中，13例患者存在肌无力和/或骨骼异常，如高拱腭、高弓足和脊柱侧弯，这些常与先天性杆状体肌病相伴。由于临床病程良性，在进行肌肉活检之前，他们一直未得到确切诊断。在第二组中，9例患者的症状在成年期出现，且未表现出典型的骨骼异常。然而，6例肌肉活检显示出先天性杆状体肌病的组织病理学特征；异常的纤维类型分布，包括1型纤维优势、1型纤维萎缩和2B型纤维缺乏。3例患者在成年前一直健康，成年后出现肌无力，并伴有杆状体肌病的病理表现。因此，成年期杆状体肌病可分为三种形式；前两种形式具有先天性良性形式的临床和病理证据，但其症状过于轻微而未被注意到。第三种形式不是遗传性疾病，可能由自身免疫病理生理学导致。
