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家族性舞蹈症中的进食性肌张力障碍，重点关注VPS13A疾病（舞蹈症-棘红细胞增多症）：临床病程及范围综述

Feeding dystonia in familial chorea, emphasis on VPS13A disease (chorea-acanthocytosis): Clinical course and a scoping review.

临床研究咽喉科IF 3.3Q2

文献信息

PMID42945634
原文在 PubMed 查看原文 ↗
发表日期2026
作者Josefin Kyhle Jensen
查看其他 12 位作者

Charlotta Rubin；Imad Halawa；Valter Niemelä；Hans Matsson；Daniela Solea；Ammar Salih；Tobias Granberg；Claes Öhberg；Riita Möller；Stellan Hertegård；Per Svenningsson；Martin Paucar

作者单位Department of Speech and Language, Karolinska University Hospital, Stockholm, Sweden. Electronic address: josefin.kyhle-jensen@regionstockholm.se.
查看其他 12 条单位信息

Department of Clinical Nutrition, Karolinska University Hospital, Stockholm, Sweden. Electronic address: charlotta.rubin@regionstockholm.se.；Department of Neurology, Hospital in Gävle, Sweden. Electronic address: imad.halawa@regiongavleborg.se.；Institute for Medical Sciences, Neurology, Uppsala University, Sweden. Electronic address: valter.niemela@neuro.uu.se.；Molecular Diagnostics and Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. Electronic address: hans.matsson@akademiska.se.；Department of Neurology, Hospital in Gävle, Sweden. Electronic address: daniela.elena.solea@regiongavleborg.se.；Department of Neurology, Västmanland's Hospital, Västerås, Sweden; Department of Neuroscience, Uppsala University, Uppsala, Sweden.；Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: tobias.granberg@regionstockholm.se.；Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: claes.ohberg@regionstockholm.se.；Department of Medical Biology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden. Electronic address: riitta.moller@ki.se.；Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; Department of Otolaryngology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: stellan.hertegard@regionstockholm.se.；Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: per.svenningsson@ki.se.；Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: martin.paucar-arce@regionstockholm.se.

期刊Journal of the neurological sciences
SCI 分区Q2
IF3.3
研究类型临床研究 · 临床
所属专科咽喉科

中文摘要

背景： 进食性肌张力障碍（FD）是一种罕见现象，表现为进食时不自主伸舌，被认为是VPS13A疾病（舞蹈症-棘红细胞增多症）的标志性表现。本文提供瑞典一家三级中心VPS13A疾病及其他家族性舞蹈症综合征患者中FD、吞咽困难及口面部特征自然史的纵向数据。我们还呈现来自文献检索的VPS13A疾病中FD的数据。
方法： 回顾了8例患者的临床数据和吞咽评估：5例VPS13A疾病、2例XK疾病（McLeod综合征）和1例亨廷顿病（HD）。对VPS13A疾病中FD的发生频率、治疗及其他口面部表现进行了范围综述。
结果： 在队列中报告了一例新的VPS13A疾病患者。5例患者存在FD；2例自行缓解，另2例呈进展性。所有患者均出现不同程度的吞咽困难；除2例外，VPS13A疾病患者均行胃造瘘术，舌根注射肉毒毒素使2例FD减轻。体重下降常见，半数患者存在舌和唇咬伤；2例VPS13A疾病患者在随访期间死亡。在我们的文献检索中，FD见于14.7%的VPS13A病例，其治疗方式（包括深部脑刺激（DBS））报道稀少。
结论： 在这项VPS13A疾病的纵向评估中，FD从轻度到致残不等，并对营养造成不利影响。在我们的检索中FD似乎不常见，但很可能被低报，且治疗选择有限。

英文摘要

BACKGROUND: Feeding dystonia (FD), a rare phenomenon with involuntary tongue protrusion while eating, is considered a hallmark of VPS13A disease (chorea-acanthocytosis). Here we provide longitudinal data on the natural history of FD, dysphagia and orofacial features among patients with VPS13A disease and other familial chorea syndromes at a tertiary center in Sweden. We also present data on FD in VPS13A disease from a literature search.
METHODS: Clinical data and swallowing assessments on eight patients were reviewed: five with VPS13A disease, two with XK disease (McLeods syndrome) and one with Huntington's disease (HD). A scoping review on the frequency of FD, its treatment and other orofacial manifestations in VPS13A disease was performed.
RESULTS: In the cohort, a new patient with VPS13A disease is reported. FD was present in 5 patients; it resolved spontaneously in 2 and was progressive in 2 others. Variable dysphagia occurred in all; all but two with VPS13A disease had a gastrostomy and botulinum toxin injections in the tongue base attenuated FD in two. Weight loss was common and biting of the tongue and lips affected half of the patients; two patients with VPS13A disease died during the follow-up. In our literature search, FD was present in 14.7% of VPS13A cases and its treatment modalities, including deep brain stimulation (DBS), sparsely reported.
CONCLUSIONS: FD ranges from mild to disabling and is detrimental to nutrition in this longitudinal assessment in VPS13A disease. FD seems to be uncommon in our search but likely underreported and treatment options are limited.