MUSCULAR DYSTROPHY. FEATURES OF OCULAR MYOPATHY, DISTAL MYOPATHY, AND MYOTONIC DYSTROPHY.
MUSCULAR DYSTROPHY. FEATURES OF OCULAR MYOPATHY, DISTAL MYOPATHY, AND MYOTONIC DYSTROPHY.
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肌营养不良症。
DOI：
10.1001/archneur.1964.00460170003001
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发表时间：
1964
影响因子：
--
通讯作者：
Lewis P. Rowland
中科院分区：
文献类型：
--
作者：
D. Schotland;Lewis P. Rowland
由于其遗传性，人类肌营养不良症被认为是先天性代谢缺陷。这些疾病的最终分类将取决于对每种疾病特定代谢缺陷的认识。然而，目前，麦卡德尔病（肌肉磷酸化酶缺乏）是唯一一种酶异常的遗传性肌病。因此，分类取决于临床依据，而且有时并不精确。强直性肌营养不良的肌病与大多数其他营养不良不同，原因有三：（1）肢体无力主要发生在远端;（2）颅肌（尤其是面部、咀嚼肌和口咽肌）经常受累;（3）存在肌强直。如果不存在肌强直，该综合征将类似于“远端肌病”。此外，在某些强直性肌营养不良的病例中，眼肌被认为是受累的，而在某些“眼肌病”的病例中，其他的颅肌和肢体肌肉也可能受累。过渡形式
Introduction Because of their hereditary nature, human muscular dystrophies are assumed to be inborn errors of metabolism. The ultimate classification of these diseases will depend upon recognition of the specific metabolic fault in each. At the present time, however, McArdle's disease (deficiency of muscle phosphorylase) is the only inherited myopathy in which the enzymatic abnormality has been identified. Classification, therefore, depends upon clinical grounds, and these are sometimes imprecise. The myopathy of myotonic dystrophy is different from most other dystrophies for three reasons: (1) Limb weakness is primarily distal; (2) cranial muscles (especially facial, masticatory, and oropharyngeal) are frequently affected; and (3) myotonia is present. If myotonia were not present, the syndrome would resemble "distal myopathy." Furthermore, the ocular muscles are said to be involved in some cases of myotonic dystrophy, and in some cases of "ocular myopathy," other cranial muscles and limb muscles may be involved. Transitional forms of