Congenital fiber type disproportion - 30 years on
Congenital fiber type disproportion - 30 years on
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DOI：
10.1093/jnen/62.10.977
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发表时间：
2003-10-01
影响因子：
3.2
通讯作者：
North, KN
中科院分区：
文献类型：
--
作者：
Clarke, NF;North, KN
三十年前，M。H.布鲁克创造了术语“先天性纤维类型不比例”（CFTD），以描述12名儿童，他们具有先天性肌病的临床特征，肌肉活检显示相对1型纤维萎缩。现在很清楚，这种组织学模式可以伴随着广泛的神经系统疾病，导致CFTD作为一个独特的疾病分类实体的幻想破灭。为了确定CFTD作为诊断实体是否具有临床实用性，我们回顾了1型纤维发育不良病例的文献，并使用严格的排除标准确定了67例CFTD病例。大多数患者在出生时表现为虚弱和张力减退，智力正常，临床病程稳定或改善。在43%的家庭中，有一个以上的人受到影响。发育不良很常见，25%的患者有挛缩或脊柱畸形。球无力和眼肌麻痹较少见，心脏受累罕见。25%的患者经历了严重的病程，10%的患者在报告时已经死亡，全部死于呼吸衰竭。眼肌麻痹、面部和延髓无力与预后不良显著相关。相对同质的表型支持保留CFTD作为一个独特的诊断实体和家族发生表明遗传基础。关于CFTD的诊断，我们没有发现强有力的证据表明1型和2型纤维尺寸之间的最小差异应该从12%增加到25%。我们还列出了其他报道的相对1型纤维萎缩的原因，以帮助他们排除CFTD。
Thirty years ago, M. H. Brooke coined the term "congenital fiber type disproportion" (CFTD) to describe 12 children who had clinical features of a congenital myopathy and relative type 1 fiber hypotrophy on muscle biopsy. It is now clear that this histological pattern can accompany a wide range of neurological disorders, leading to disillusionment with CFTD as a distinct nosological entity. To determine whether the CFTD has clinical utility as a diagnostic entity, we have reviewed the literature for cases of type 1 fiber hypotrophy and have used strict exclusion criteria to identify 67 cases of CFTD. Most patients presented at birth with weakness and hypotonia, had normal intelligence, and followed a static or improving clinical course. In 43% of families, more than 1 individual was affected. Failure to thrive was common and 25% of patients had contractures or spinal deformities. Bulbar weakness and ophthalmoplegia were less common and cardiac involvement was rare. Twenty-five percent followed a severe course and 10% had died at the time of reporting, all from respiratory failure. Ophthalmoplegia and facial and bulbar weakness were significantly associated with a poorer prognosis. The relatively homogeneous phenotype supports the retention of CFTD as a distinct diagnostic entity and familial occurrence suggests a genetic basis. Regarding the diagnosis of CFTD, we found no strong evidence that the minimum difference between type 1 and type 2 fiber sizes should be increased from 12% to 25%. We also list the other reported causes of relative type 1 fiber hypotrophy to aid their exclusion from CFTD.