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‘Pseudo‐Dominant’ Inheritance in Friedreichs Ataxia: Clinical and Genetic Study of a Brazilian Family

机译:弗里德里希共济失调的伪优势遗传:一个巴西家庭的临床和遗传研究

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摘要

Friedreich's ataxia (FA) is an autosomal recessive inherited disorder characterized by progressive gait and limb ataxia, hypertrophic cardiomyopathy, limb muscular weakness, and areflexia with positive extensor plantar response. Loss of vibratory and position sense, skeletal abnormalities, and dysarthria are common comorbid features. The wide spectrum of disease may lead to a diagnostic challenge, and in such a scenario, the inheritance pattern might be a clue to diagnosis. A rare and peculiar pattern observed in some families is the pseudodominant pattern that is usually characterized by phenotypic variation, which, in turn, could make it even harder to get to a correct diagnosis. This pattern, although seemingly similar to a true dominant pattern of inheritance, should be kept in mind whenever one is evaluating a family with FA. We evaluated a Brazilian family of Italian ancestry with variation of phenotype among affected siblings.
机译:弗里德赖希共济失调(FA)是一种常染色体隐性遗传性疾病,其特征是进行性步态和肢体共济失调,肥厚型心肌病,肢体肌肉无力和伸肌plant肌反应阳性的自发性反射障碍。振动和位置感丧失,骨骼异常和构音障碍是常见的合并症。疾病的广泛范围可能导致诊断挑战,在这种情况下,遗传模式可能是诊断的线索。在某些家庭中观察到的罕见而独特的模式是通常以表型变异为特征的假主导模式,这反过来可能使得更难获得正确的诊断。尽管看似类似于真正的主导遗传模式,但在评估具有FA的家庭时,应牢记这一模式。我们评估了一个巴西血统的意大利血统家族,其表型在受影响的同胞之间有所差异。

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