Autosomal dominant spinocerebellar ataxia (SCA) type 12 is a rare SCA characterized by a heterogeneous phenotype. Action tremor of the upper limbs is the most common presenting sign and cerebellar signs can appear subsequently. In many cases, minor signs, like dystonia, can be predominant even at onset. Laryngeal dystonia (spasmodic dysphonia) has been observed only in one case of SCA12 and never reported at disease onset. We present a 61-year-old female who developed spasmodic dysphonia followed by dystonic tremor and subsequent ataxia diagnosed with SCA12. Thus, spasmodic dysphonia can be a presenting symptom of SCA12.

中文翻译：

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痉挛性听觉障碍是脊髓小脑性共济失调12型的表现症状。

常染色体显性遗传型脊髓小脑共济失调（SCA）类型12是罕见的SCA，具有异质表型。上肢活动性震颤是最常见的表现体征，随后可出现小脑体征。在许多情况下，即使在发作时，诸如肌张力障碍等轻微体征也可能占主导。仅在一例SCA12病例中观察到喉肌张力障碍（痉挛性肌张力障碍），发病时从未报道过。我们介绍了一名61岁的女性，该女性发展为痉挛性听觉障碍，随后发生肌张力性震颤，随后被诊断为SCA12共济失调。因此，痉挛性发声障碍可能是SCA12的症状。