痉挛性发声障碍作为12型脊髓小脑共济失调的首发症状

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.

作者信息

Rossi Jessica, Cavallieri Francesco, Giovannini Giada, Budriesi Carla, Gessani Annalisa, Carecchio Miryam, Di Bella Daniela, Sarto Elisa, Mandrioli Jessica, Contardi Sara, Meletti Stefano

机构信息

Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.

Unit of Neurology, AOU Modena, Modena, Italy.

出版信息

Neurogenetics. 2019 Aug;20(3):161-164. doi: 10.1007/s10048-019-00580-7. Epub 2019 Jun 13.

DOI:10.1007/s10048-019-00580-7

PMID:31190316

Abstract

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.

摘要

常染色体显性遗传性脊髓小脑共济失调12型（SCA12）是一种罕见的脊髓小脑共济失调，具有异质性表型。上肢动作性震颤是最常见的首发症状，随后可出现小脑体征。在许多病例中，即使在发病时，如肌张力障碍等轻微体征也可能占主导。喉肌张力障碍（痉挛性发声障碍）仅在1例SCA12患者中观察到，且从未在疾病发作时报道过。我们报告1例61岁女性，该患者先出现痉挛性发声障碍，随后出现肌张力障碍性震颤，继而被诊断为SCA12共济失调。因此，痉挛性发声障碍可能是SCA12的首发症状。