cranial 움직임 장애 nature

[문형철]

1. nature  
2. nature reviews neurology  
3. review articles  
4. article

• Review Article
• Published: February 2009

Cranial movement disorders: clinical features, pathophysiology, differential diagnosis and treatment

• Giovanni Fabbrini, 
• Giovanni Defazio, 
• Carlo Colosimo, 
• Philip D Thompson & 
• Alfredo Berardelli 

Nature Clinical Practice Neurology volume 5, pages93–105 (2009)Cite this article

•  
•  
•  

Abstract

Cranial movement disorders are a common neurological problem. These disorders can be limited to the cranial muscles alone or manifest as part of a more generalized movement disorder. Cranial movement disorders can originate from the highest (motor cortex) to the lowest (cranial nerve and muscle) levels of the motor system. Owing to the lack of diagnostic tests and biomarkers for these disorders, their differential diagnosis can be difficult even for the experienced neurologist. Advances have, however, been made in the identification and treatment of these conditions, and most can be managed effectively with appropriate knowledge of the diagnostic signs and effective treatments. Here, we review the clinical features, pathophysiologies and therapies of the main movement disorders that affect the face, jaw, tongue and palate.

두개골 운동 장애는

흔한 신경학적 문제입니다.

이러한 장애는

두개골 근육에만 국한되거나

보다 일반적인 운동 장애의 일부로 나타날 수 있습니다.

두개골 운동 장애는

운동 시스템의 가장 높은 수준(운동 피질)에서

가장 낮은 수준(두개골 신경과 근육)까지 발생할 수 있습니다.

이러한 장애에 대한 진단 검사 및 바이오마커가 부족하기 때문에,

경험이 풍부한 신경과 전문의조차도 감별 진단이 어려울 수 있습니다.

그러나 이러한 상태의 식별과 치료에 진전이 있었고,

대부분의 경우 진단 징후와 효과적인 치료법에 대한 적절한 지식을 통해 효과적으로 관리할 수 있습니다.

여기에서는

얼굴, 턱, 혀, 입천장에 영향을 미치는

주요 운동 장애의 임상적 특징, 병태 생리학, 치료법을 살펴봅니다.

 face, jaw, tongue and palate.

Key Points

•  
•  
•  
•  
•  
•  

• 두개골 운동 장애는 안면 근육에 국한되거나 일반화된 운동 장애의 일부일 수 있습니다.
• 두개골 운동 장애는 말초 또는 중추적 메커니즘에 의해 생성될 수 있습니다.
• 신경생리학 및 신경영상학 연구는 이러한 장애의 병태생리학에 대한 중요한 통찰력을 제공합니다.
• 신경생리학 및 신경영상학 연구도 도움이 될 수 있지만, 두개골 운동 장애의 감별 진단은 주로 임상적 특징에 기초하여 이루어집니다.
• 두개골 운동 장애가 일반화된 질병의 일부인 경우, 근본적인 장애의 치료가 필수적입니다.
• 보툴리눔 신경독소는 대부분의 국소성 두개골 운동 장애에 효과적인 증상 치료법입니다.

INTRODUCTION

Movement disorders that affect the face, jaw, tongue or palate are a frequent neurological problem. These disorders can be limited to the cranial muscles or manifest as part of a more generalized movement disorder. Cranial movement disorders can interfere with bulbar functions such as talking, chewing and swallowing. Some cranial hyperkinesias also cause intense social embarrassment. Epidemiological studies of facial movement disorders have concentrated mainly on cranial dystonia and hemifacial spasm, whereas most other cranial movement disorders are described mainly in clinical series or case reports. These differing types of data make precise eval‎ation of the preval‎ence of the different disorders within this group difficult. Furthermore, the variable clinical presentation of cranial movement disorders and the lack of diagnostic tests and bimarkers for these disorders make reaching a correct diagnosis a difficult clinical task even for movement disorder specialists. Cohesive information on these conditions is, therefore, required. To achieve a successful diagnosis, the diagnostic work-up should include the taking of a full family history, identification of possible exposure to drug treatment, and recognition of motor and nonmotor associated signs and symptoms, as well as a full physical examination. In this paper, we review the clinical features, pathophysiology, differential diagnosis and treatment of the main movement disorders that affect the face, jaw, tongue and palate.

소개

안면, 턱, 혀 또는 입천장에 영향을 미치는 운동 장애는

흔한 신경학적 문제입니다.

이러한 장애는

두개골 근육에 국한되거나 보다

일반적인 운동 장애의 일부로 나타날 수 있습니다.

두개골 운동 장애는

말하기, 씹기, 삼키기 등의

연수 기능을 방해할 수 있습니다.

bulbar functions such as talking, chewing and swallowing

일부 두개골 운동 과다증은

심각한 사회적 당혹감을 유발하기도 합니다.

안면 운동 장애에 대한 역학 연구는

주로 두개골 근긴장 이상과 반안면 경련에 집중되어 있는 반면,

대부분의 다른 두개골 운동 장애는 주로 임상 시리즈나 사례 보고서로 기술되어 있습니다.

이러한 서로 다른 유형의 데이터로 인해

이 그룹 내의 다양한 장애의 유병률을 정확하게 평가하기가 어렵습니다.

또한,

두개골 운동 장애의 다양한 임상 증상과

이러한 장애에 대한 진단 검사 및 이중 마커의 부족으로 인해

운동 장애 전문가에게도 정확한 진단을 내리는 것이 어려운 임상 작업이 되고 있습니다.

따라서

이러한 상태에 대한 통합적인 정보가 필요합니다.

성공적인 진단을 위해서는

전체 가족력 파악,

약물 치료에 대한 노출 가능성 파악,

운동 및 비운동 관련 징후와 증상의 인식,

그리고 전체 신체 검사가 포함되어야 합니다.

이 논문에서는

얼굴, 턱, 혀, 입천장에 영향을 미치는

주요 운동 장애의 임상적 특징, 병태 생리학, 감별 진단 및 치료에 대해 검토합니다.

Movement disorder eyelips

Blepharospasm - 안검경련...

Blepharospasm is one of the most common forms of focal dystonia. The condition is characterized by intermittent, repetitive, involuntary contractions of the orbital and preseptal orbcularis oculi muscle fibers, which can result in narrowing of the palpebral fissure or complete closure of the eyelid. These spasms of eye closure always lead to lowering of the eyebrow beneath the superio orbital rim, a condition called Charcot sign (Table 1, Figure 1).1–3

In addition, alternating dystonic discharges in the pretarsal orbicularis oculi muscles and levator palpebrae superioris muscles produce brief clonic flickering of the upper eyelids of both eyes.4 Characteristic features of blepharospasm include a high frequency of ocular symptoms before onset, and the patient’s performance of sensory tricks (‘geste antagoniste’) to amelorate the dystonic movements associated with the condition—touching the eyebrow, in particlar.5 Blepharospasm can occur in isolation, or with movements of the lower face and/or jaw (oromandibular dystonia). The combination of blepharospasm and ormandibular dystonia is called Meige syndrome. Blepharospasm usually starts between the fifth and seventh decades of life, and it affects more women than men. The preval‎ence of blepharospasm is estimated to be between 12 and 133 cases per million individuals worldwide.6 In the majority of patients blepharospasm is primary in origin, resulting from genetic and/or environmental factors.7 Secondary causes of the diorder include Parkinson disease8 and progressive supranuclear palsy.9 In patients with Parkinson disease, blepharospasm can be induced by deep brain stimulation of the subthalamic nucleus.10 Blepharospasm has been studied by several techniques. In response to an electrical stimulus of the trigeminal nerve or to a sudden noise, patients exhibit increased excitability of the interneurons that mediate brainstem reflexes (blink reflex, masseter inhibitory reflex and auditory startle reaction).11,12 Transcranial magnetic stimulation studies reveal additional changes in cortical motor excitability and plasticity.13,14 Together, these findings suggest that reduced inhibition (or increased facilitation) occurs in patients with blepharospasm at the level of the brainstem and cortical motor areas.11 Sensory processing abnormalities are also evident in blepharospasm, with alterations in spatial and temporal discrimination thresholds when somatosensory stimuli are applied to the face.15 Findings from neuroimaging studies support the general view that blepharospasm is associated with abnormalities in cortical and sucortical areas. Voxel-based morphometry of MRI scans has indicated that gray-matter volume is altered in the putamen,16 caudate nucleus and cerebellum in patients with blepharospasm.17 Conversely, however, another study found no cortical or subcortical changes on diffusion tensor imaging in patients with the condition.18 As in other forms of focal dystonia, striatal dopaminergic D2 receptor binding is reduced in blepharospasm.19 An increase in glucose metabolism on 2-[18F] fluoro-2-deoxyd-glucose (FDG)-PET has been found in the pons, cerebellum, thalamus and striatum in patients with the disorder.20 Finally, abnormal cortical sensorimotor processing has been demonstrated in patients with blepharospasm with use of H2 15O-PET and functional MRI.21,22

안검경련은 

국소성 긴장 이상증의 가장 흔한 형태 중 하나입니다. 

이 질환은 안와와 눈꺼풀 앞쪽의 안구 근육 섬유가 

간헐적으로 반복적으로 비자발적으로 수축하는 것이 특징이며, 

이로 인해 눈꺼풀이 좁아지거나 완전히 닫힐 수 있습니다. 

이러한 눈꺼풀 경련은 

항상 눈썹을 안와 위쪽 가장자리 아래로 내리는 것으로 이어지며, 

이를 샤르코 증후군이라고 합니다(표 1, 그림 1).1-3

또한, 

안검하근과 상안검거근의 교대성 긴장성 방출은 

양쪽 눈의 윗 눈꺼풀에 짧은 간헐적 경련을 일으킵니다.4 

안검경련의 특징적인 증상으로는 

발병 전 안구 증상이 자주 나타나고, 

환자는 눈썹을 만지는 것과 같은 안면근육긴장증과 관련된 운동장애를 완화하기 위한 

감각적 트릭('geste antagoniste')의 수행. 5 

안검경련은 

단독으로 발생하거나, 

하안면 및/또는 턱의 움직임(악관절증)과 함께 발생할 수 있습니다. 

안검경련과 하악근긴장 이상증의 조합을 

메이게 증후군이라고 합니다. 

안검경련은 

보통 50대부터 70대 사이에 시작되며, 

남성보다 여성에게 더 많이 발생합니다. 

안검경련의 유병률은 

전 세계적으로 100만 명당 12~133명으로 추정됩니다.6 

대부분의 환자에서 안검경련은 

유전적 및/또는 환경적 요인에 의해 발생하는 원발성 질환입니다.7 

이차적 원인은 다음과 같습니다. 

디오더에는 파킨슨병8과 진행성 핵상마비9가 포함됩니다. 

파킨슨병 환자의 경우, 시상하핵의 심부뇌자극으로 안검경련이 유발될 수 있습니다.10 

안검경련은 여러 가지 기법으로 연구되어 왔습니다. 

삼차신경의 전기적 자극이나 갑작스러운 소음에 반응하여, 

환자들은 뇌간 반사(깜박임 반사, 안마 억제 반사, 청각적 놀람 반응)를 매개하는 

간신경의 흥분성이 증가합니다.11,12 

경두개 자기 자극 연구에 따르면, 피질 운동 흥분성과 가소성에 추가적인 변화가 있습니다.13,14 이러한 연구 결과들을 종합해 보면, 억제 감소(또는 촉진 증가)가 )은 뇌간과 대뇌피질 운동 영역에서 안검경련이 있는 환자들에게서 발생합니다.11 감각 처리 이상은 안검경련에서도 분명하게 나타나는데, 얼굴에 체성 감각 자극이 가해졌을 때 공간 및 시간적 구분 임계치가 변화하는 것이 그 예입니다.15 신경 영상 연구의 결과는 안검경련이 대뇌피질과 피질하 영역의 이상과 관련이 있다는 일반적인 견해를 뒷받침합니다. MRI 스캔의 복셀 기반 형태 측정법은 안검경련 환자의 회백질 부피가 16번 뇌실, 17번 소뇌, 18번 소뇌에서 변형된다는 것을 보여줍니다. 그러나 다른 연구에서는 이 질환을 가진 환자의 확산 텐서 영상에서 피질 또는 피질하 변화가 발견되지 않았습니다. 

다른 형태의 국소성 긴장 이상과 마찬가지로, 

안검경련 환자의 선조체 도파민 D2 수용체 결합이 감소합니다. .19 2-[18F] 플루오로-2-데옥시-글루코스(FDG)-PET에 의한 포도당 대사 증가가 이 질환 환자의 뇌교, 소뇌, 시상, 선조체에서 발견되었습니다.20 

마지막으로, 

H2 15O-PET와 기능적 MRI를 사용하여 

안검경련 환자의 비정상적인 대뇌 피질 감각운동 처리 과정을 입증했습니다.21,22

The differential diagnosis of blepharospasm includes apraxia of eyelid opening, hemifacial spasm and tics (Tables 1 and 2). Charcot sign occurs in blepharospasm but not in eyelidopening apraxia, so this symptom can help to differentiate these two disorders. Several clinical findings help to differentiate blepharspasm from hemifacial spasm. For instance, in blepharospasm the muscle spasms are usually bilateral, whereas in hemifacial spasm the spasms almost invariably involve only one side of the face. In the rare cases of bilateral hemifacial spasm, contractions of the orbicularis oculi muscles are almost always indepedent and asynchronous, whereas in patients with blepharspasm contractions of these muscles manifest concomitantly. Addtionally, eyebrow raising is seen in hemfacial spasm, caused by contraction of the frontalis muscle ipsilateral to the facial spasm (the ‘other Babinski sign’); this symptom is the opposite to the eyebrow lowering seen during eyelid closure in blepharspasm.23 Furthermore, the synkinesis during voluntary facial movement that occurs in hemifacial spasm is not evident in blepharospasm. The aforementioned sensory tricks that patients with blepharospasm use to ameliorate dystonic movements can distinguish this disorder from eyelid tics, which are nonrhythmic and can be partially suppressed by voluntary effort. Neurophysiological studies demonstrate that increased excitability of the R2 component of the blink reflex is a common finding in blepharospasm but not in eyelid apraxia.4,11 The treatment of choice for blepharospasm is injection of botulinum neurotoxin (BoNT) into the orbicularis oculi muscle (Table 3).24,25 Injection of BoNT into this muscle—usually in the orbital and preseptal region—can produce a 90–95% improvement in symptoms and the benefit is maintained after many years of treatment.25 Pharmacological therapy with anticholinergics, benzodiazepines or tetrabenazine only rarely improves blepharospasm. Selective peripheral denervation or orbicularis oculi myecomy can be considered in the occasional patients who do not respond to BoNT injection.26

안검경련의 감별진단에는 

눈꺼풀 개폐 운동 실조증, 

반안면 경련, 

틱(표 1과 2)이 포함됩니다. 

샤르코 증후군은 

안검경련에서는 나타나지만 

눈꺼풀 개폐 운동 실조증에서는 나타나지 않으므로, 

이 증상을 통해 두 질환을 구분할 수 있습니다. 

여러 가지 임상적 소견이 

안검경련과 반안면 경련을 구분하는 데 도움이 됩니다. 

예를 들어, 

안검경련의 경우 

근육 경련이 양측에 나타나지만, 

반안면경련의 경우 경련이 거의 항상 얼굴의 한쪽에만 나타납니다. 

드물게 양측 반안면경련이 나타나는 경우, 

안륜근의 수축은 거의 항상 독립적이고 비동기적으로 나타나지만, 

안검경련 환자의 경우 이 근육의 수축이 동시에 나타납니다. 

또한, 

안검경련의 경우, 

안검경련과 같은 쪽의 전두근 수축으로 인한 안면부 경련에서 눈썹이 올라가는 현상이 관찰됩니다('다른 바빈스키 징후'). 

이 증상은 안검경련에서 눈꺼풀을 감을 때 나타나는 눈썹 내림과 반대되는 증상입니다.23 

또한, 안검경련에서는 안면부 경련에서 나타나는 자발적인 안면 운동 중의 공동운동이 뚜렷하게 나타나지 않습니다. 안검경련 환자들이 긴장성 운동 장애를 개선하기 위해 사용하는 앞서 언급한 감각적 트릭은 리듬이 없고 자발적인 노력으로 부분적으로 억제할 수 있는 눈꺼풀 틱과 이 질환을 구분할 수 있게 해줍니다. 

신경생리학적 연구에 따르면, 눈 깜빡임 반사의 R2 구성요소의 흥분성 증가는 안검경련에서는 흔히 발견되지만 안검무력증에서는 그렇지 않다고 합니다.4,11 

안검경련의 치료법은 

안륜근에 보툴리눔 신경독소(BoNT)를 주입하는 것입니다(표 3).2 4,25 

이 근육(보통 안와와 전방 안와 영역)에 

보툴리눔 독소를 주입하면 증상이 90-95% 개선되고, 

치료 후에도 그 효과가 수년 동안 지속됩니다.25 

항콜린제, 벤조디아제핀 또는 테트라베나진을 이용한 약물 치료는 

안검경련을 개선하는 데 거의 효과가 없습니다. 

보툴리눔 독소 주사에 반응하지 않는 일부 환자에게 

선택적 말초 신경 절제술 또는 안륜근 근종 제거술을 고려할 수 있습니다.26

Eyelid apraxia

Eyelid apraxia occurs in two forms—apraxia of eyelid opening and apraxia of eyelid closure. Apraxia of eyelid opening is characterized by transient inability to initiate, and/or failure to sustain, eyelid elevation, in the absence of overt orbicularis oculi muscle contraction (Table 1).27 With apraxia of eyelid opening, no oculomotor or ocular sympathetic nerve dysfunction or ocular myopathy is present. During episodes of eyelid closure, patients typically elevate their eyebrows in an attempt to open the eyelids. Patients sometimes use a finger to help open the eyelids (either by prising open the lid or as a sensory trick). The episodes of eyelid closure and the delay in eyelid reopening that characterize apraxia of eyelid opening can stem from involuntary muscle contractions that are restricted to the pretarsal portion of the orbicularis oculi (pretarsal or atypcal blepharospasm) or from transient involuntary inhibition of the levator palpebrae superioris muscles. Apraxia of eyelid opening can occur in isolation or in association with blepharospasm or atypical parkinsonism. In patients with Parkinson disease, apraxia of eyelid opening can be induced by deep brain stimulation of the subthalamic nucleus.10 The isolated form of apraxia of eyelid opening usually starts between the fifth and seventh decades of life and the disorder affects more women than men.28 A delay in eyelid reopening typically assocated with bilateral eyebrow elevation distinguishes isolated apraxia of eyelid opening from blepharospasm and can help to identify this condition.27 Injection of BoNT into the pretarsal part of the orbicularis oculi muscles (the mid-upper eyelid close to the eyelash line) improves clinical symptoms in patients with apraxia of eyelid opening (Table 3).29 Apraxia of eyelid closure is characterized by transient inability to close the eyelids voluntarily. This condition can result from right-sided frontal cortex lesions of various origin or from progressive supranuclear palsy30 and is considered to be a supranuclear lid dysfunction. In the differential diagnosis, apraxia of eyelid closure should be distinguished from other supranuclear disorders of lid movements, such as ‘motor impersistance’, which is characterized by inability to keep the eyes closed for more than a few seconds. No specific treatment is available for apraxia of eyelid closure, but patients try to overcome the lid disturbance by use of a variety of synkinetic movements.

눈꺼풀 운동 실조증

눈꺼풀 운동 실조증은 

눈꺼풀 열림 운동 실조증과 

눈꺼풀 닫힘 운동 실조증의 두 가지 형태로 발생합니다. 

눈꺼풀 열림 운동 실조증은 

뚜렷한 안륜근 수축이 없는 상태에서 눈꺼풀을 올리는 것을 시작할 수 없거나 

지속할 수 없는 것이 특징입니다(표 1).27 

눈꺼풀 열림 운동 실조증의 경우, 

안구 운동 또는 안구 교감 신경 기능 장애 또는 안구 근병증이 없습니다. 

눈꺼풀을 감고 있는 동안 환자들은 눈꺼풀을 열기 위해 눈썹을 들어 올립니다. 환자들은 때때로 손가락을 사용하여 눈꺼풀을 열기도 합니다(눈꺼풀을 들어 올리거나 감각을 자극하는 방법). 눈꺼풀 개폐 운동 실조증의 특징인 눈꺼풀을 감았다 뗀 후 다시 뜨는 데 걸리는 시간은 안륜근의 전두부에 국한된 비자발적 근육 수축(전두부 또는 비정형 안검경련) 또는 상안검거근의 일시적 비자발적 억제로 인해 발생할 수 있습니다. 눈꺼풀 개폐 운동 실조증은 단독으로 발생하거나 안검경련 또는 비정형 파킨슨증과 함께 발생할 수 있습니다. 파킨슨병 환자의 경우, 시상하핵의 심부뇌자극으로 안검개방 운동실조증이 유발될 수 있습니다.10 안검개방 운동실조증의 분리형은 보통 50세에서 70세 사이에 시작되며, 이 장애는 남성보다 여성에게 더 많이 발생합니다.28 안검개방 운동실조증의 분리형은 일반적으로 양쪽 눈썹이 올라가는 증상과 관련이 있습니다. 안검경련의 경우, 보툴리눔 독소를 주사하면 이 상태를 식별하는 데 도움이 될 수 있습니다.27 안검경련 환자의 경우, 안륜근(속눈썹 라인에 가까운 눈꺼풀 위쪽 중앙)의 전방에 보툴리눔 독소를 주사하면 임상 증상이 개선됩니다(표 3).29 안검폐쇄증은 자발적으로 눈꺼풀을 감을 수 없는 일시적인 무능력으로 특징지어집니다. 이 상태는 다양한 원인으로 인한 우측 전두엽 피질의 병변이나 진행성 핵상마비30로 인해 발생할 수 있으며, 핵상 뚜껑 기능 장애로 간주됩니다. 감별 진단에서 눈꺼풀 폐쇄 운동 실조증은 몇 초 이상 눈을 감아 둘 수 없는 '운동 무감각'과 같은 다른 핵상 운동 장애와 구별되어야 합니다. 눈꺼풀 폐쇄 운동 실조증에 대한 구체적인 치료법은 없지만, 환자들은 다양한 운동 동시 운동을 통해 눈꺼풀 장애를 극복하려고 노력합니다.

Dystonia

Dystonia is characterized by sustained muscle contractions, which lead to twisting and repetitive movements,11 and this disorder can affect the face in several conditions. In the majority of patients with Wilson disease, dystonia causes a prominent facial grimace (the ‘sardonic smile’, or ‘risus sardonicus’) that is usually accompanied by dystonia in other body parts.31 An action dystonia of facial muscles that is characterized by frontalis and platysma contraction and gives a startled appearance is common in patients with neuroferritinopathy.32 Acute dystonic reactions to drugs can involve the facial muscles, producing grimacing and additional contractions of the jaw, tongue and neck muscles, and presence of oculogyric crises.33 Neurophysiological studies in these conditions are lacking. Therapy for acute dystonic reactions involves withdrawal of the offending drug (usually a neuroleptic agent) and use of anticholinergics or benzodiazepines. 

근긴장 이상

근긴장 이상은 지속적인 근육 수축을 특징으로 하며, 

이로 인해 비틀림과 반복적인 움직임이 발생합니다.11 

이 장애는 여러 조건에서 얼굴에 영향을 미칠 수 있습니다. 

윌슨병 환자의 대다수에서, 근긴장 이상은 다른 신체 부위의 근긴장 이상이 동반되는 두드러진 얼굴 찡그림('비웃는 듯한 미소' 또는 'risus sardonicus')을 유발합니다.31 

안면 근육의 행동성 근긴장 이상은 전두근과 접근근의 수축을 특징으로 하며, 놀란 표정을 짓는 것은 신경페리틴증 환자들에게서 흔히 볼 수 있는 증상입니다.32 약물에 대한 급성 긴장성 반응은 안면 근육을 포함할 수 있으며, 이를 통해 찡그린 표정과 턱, 혀, 목 근육의 추가적인 수축, 안구 운동성 위기가 발생할 수 있습니다.33 이러한 상태에 대한 신경생리학적 연구는 부족합니다. 급성 긴장 이상 반응에 대한 치료는 문제의 약물(보통 신경이완제)을 중단하고 항콜린제 또는 벤조디아제핀을 사용하는 것입니다. 

Drug-induced dyskinesia

Facial dyskinesias are involuntary, repetitive and random movements of the muscles of facial expression‎ that manifest as an ever-changing combination of frowning, eyelid elevation, blinking, grimacing, lip pouting, puckering, smacking, blowing, puffing, whistling and sucking movements. Tardive orofacial dykinesias (TDs), which are induced by chronic use of dopamine receptor blocking agents,34 are typically focused on the oral–buccal–lingual area, with chewing, lip smacking, lip puckeing, and twisting or protrusion of the tongue, usually without involvement of other body parts. These dykinesias are often accompanied by breathing noises, sighing and grunts (Table 2). TDs are common in oupatients with psychiatric diorders, among whom they have an incidence of up to 20%;35 however, the use of atypical antipsychotics has reduced the risk to about one-third of that seen with traditional neuroleptics, as demonstrated by a metaanalysi. 36 The most important risk factors for TD are increased age and duration of exposure to dopamine receptor blocking agents.35 Treatment of TDs involves withdrawal of the offending drugs and their replacement with atypical neuroleptics or with dopamine-depleting agents such as tetrabenazine. Other therapies that can be used include benzodiazepines and vitamin E (Table 3). Levodopa-induced dyskinesias (LIDs) are seen in patients with Parkinson disease. These dykinesias commonly affect the face, sometimes have dystonic features, and are nearly always associated with involuntary movements in other parts of the body (Table 2). After 5 years of levodopa treatment, about 40% of patients with Parkinson disease develop LIDs; LIDs are most common in patients with young-onset disease.37 Levodopainduced dyskinesias of the lower face, lips and platysma that resemble risus sardonicus can develop in patients with multiple system atrophy, often in the absence of limb dykinesias or marked clinical improvement of motor signs.38 In patients with Parkinson disease, LIDs are managed through readjustment of the dopaminergic agent and/or its dose and administration of amantadine or clozapine (Table 3). Deep brain stimulation of the globus pallidum and subthalamic nucleus is also an effective strategy. No specific treatments exist for LIDs in patients with multiple system atrophy. The clinical features of facial involvement in TDs and LIDs can resemble those seen in Huntington disease, and Huntington disease should, therefore, be considered in the diferential diagnosis. Huntington chorea involves the forehead and eyebrows more than the perioral musculature, whereas the converse pattern is more frequently observed in TDs and LIDs.39 Motor impersistence of the tongue is common in chorea but is not usually seen in TDs. Grimaing movements with lip biting, tongue protrsion during eating and vocalization should raise the suspicion of neuroacanthocytosi40 or Lesch–Nyhan syndrome. 

약물 유발성 운동 이상증

안면 운동 이상증은 

표정을 짓는 근육의 비자발적이고 반복적이며 무작위적인 움직임으로, 

찡그리기, 눈꺼풀 올리기, 깜빡임, 찡그리기, 입술 내밀기, 입술 오므리기, 손바닥으로 입 가리기, 입으로 바람 불어넣기, 입으로 숨 내쉬기, 휘파람 불기, 빨기 등의 움직임의 끊임없이 변화하는 조합으로 나타납니다. 

만성적으로 도파민 수용체 차단제를 사용하면 유발되는 

지연성 구강안면 운동 이상증(TDs)은34 

일반적으로 씹기, 입술 쩝쩝대기, 입술 쫑긋거리기, 혀를 비틀거나 내밀기 등의 구강-협측-설측 부위에 집중적으로 나타나며, 

보통 다른 신체 부위의 관여 없이 발생합니다.

Tardive orofacial dykinesias

지연성 구강안면 운동이상증

러한 운동 이상증은 종종 호흡음, 한숨, 끙끙거림과 함께 나타납니다(표 2). 

TD는 정신 질환을 앓고 있는 환자들에게 흔히 나타나며, 그 중 20%까지 발생합니다35. 

그러나 메타 분석에 따르면, 

비정형 항정신병약의 사용은 

전통적인 신경이완제 사용 시 발생하는 위험을 약 1/3 수준으로 감소시켰습니다. 36 

TD의 가장 중요한 위험 요인은 

나이가 들수록 도파민 수용체 차단제에 노출되는 시간이 길어질수록 증가한다는 것입니다.35

 TD의 치료에는 문제의 약물을 중단하고 비정형 신경이완제 또는 테트라벤아진과 같은 도파민 고갈 약물로 대체하는 것이 포함됩니다. 사용할 수 있는 다른 치료법으로는 벤조디아제핀과 비타민 E가 있습니다(표 3). 

레보도파 유발 운동 이상증(LIDs)은 파킨슨병 환자에서 나타납니다. 

이 운동 이상증은 일반적으로 얼굴에 영향을 미치며, 

때로는 근긴장 이상 증상이 나타나기도 하고, 

거의 항상 신체의 다른 부위에서 일어나는 비자발적 움직임과 관련이 있습니다(표 2). 

5년간의 레보도파 치료 후,

킨슨병 환자의 약 40%가

LID를 경험합니다.

LID는 발병 연령이 젊은 환자들에게서 가장 흔하게 나타납니다.37 레보도파로 인한 하안면, 입술, 그리고 광대근의 이상 운동은 웃음근육경련과 유사한 증상을 일으킬 수 있습니다. 다발성 시스템 위축증 환자에서, 종종 사지 운동 이상이나 운동 징후의 현저한 임상적 개선이 없는 경우가 있습니다.38 파킨슨병 환자의 경우, LID는 도파민 작용제 및/또는 그 용량의 재조정과 아마탄딘 또는 클로자핀 투여를 통해 관리됩니다(표 3). 뇌의 회백질과 시상하핵의 심부 뇌 자극도 효과적인 전략입니다. 다중 시스템 위축증 환자의 LID에 대한 구체적인 치료법은 존재하지 않습니다. TD와 LID의 안면 침범의 임상적 특징은 헌팅턴병에서 나타나는 것과 유사할 수 있으므로, 따라서, 헌팅턴병을 감별 진단에 고려해야 합니다. 헌팅턴병은 안면 주변 근육보다 이마와 눈썹에 더 많이 나타나지만, 근긴장 이상과 운동 실조증에서는 그 반대 패턴이 더 자주 관찰됩니다.39 혀의 운동 불응성은 운동 실조증에서 흔히 나타나지만, 근긴장 이상에서는 일반적으로 나타나지 않습니다. 입술을 깨물고 하는 씹는 동작, 식사 중 혀를 내밀거나 발성하는 행동은 신경아칸소세포증40 또는 레쉬-나이한 증후군을 의심하게 합니다. 

Tics

Tics are brief, rapid, nonrhythmic movements that patients can willfully suppress at certain times. Tics commonly affect the face, causing eye blinking, eyebrow raising, darting of the eyes, grimacing, mouth opening, tongue protrusion, platysma contractions, and twitching of the nose (Table 2). Tics can have a dystonic component, with ocular deviation, bruxism, mouth opening, and eye closure that mimics blepharospasm.41 Facial tics can occur in isolation but are usually accompanied by tics in other parts of the body. Tics are most preval‎ent between the ages of 9 and 11 years. The condition occurs predomnantly in males and children with psychiatric comorbidities or educational problems, and its overall preval‎ence is estimated to be 6–12%.42 Facial tics can occur as an isolated phenmenon or as part of Tourette syndrome. Tics, incluing Tourette syndrome, have a genetic basis,43 but secondary forms of tics are recognized. Post-infectious autoimmune mechanisms have recently emerged as contributing factors in some cases.44

In patients with facial tics, the blink and startle reflexes indicate increased excitability of brainstem interneurons.45 Functional neurimaging studies (functional MRI, single-photon-emissio CT [SPECT] and PET) indicate that a nospecific pattern of increased motor cortical activity— such as is also seen in other hypekinetic disorders—might occur that involves cortical– striatal–thalamic–cortical loops.46 Witin this cortical network, the cingulate cortex innevates the upper face bilaterally and receives projetions from the limbic lobe and amydala, coveying emotional expressions to the facial muscles.47 In the differential diagnosis, tics must be distinguished from habitual facial gestures or mannerisms that are evident in the general population, as well as from facial stereotypies in patients with neuropsychiatric conditions. The major distinguishing clinical feature of tics is their stereotyped pattern, which contrasts with the random distribution of facial chorea. The fact that tics can be suppressed by an effort of will also distinguishes these movements from chorea and myoclonus. The differential diagnosis of tics also includes clonic eyelid movements in blepharospasm. Tics can be treated with neuroleptic drugs or with dopamine-depleting agents such as tetrabenazine.48 Other therapies include α2-adrenergic agonists, clonazepam and nicotine gum. Deep brain stimulation of the subthalamic nucleus can be a useful treatment for tics in very severe cases of Tourette syndrome.49 When tics selectively affect facial muscles, BoNT injection into the most affected muscles can be useful (Table 3).50

틱

틱은 환자가 의도적으로 억제할 수 있는 짧고 빠르며 리듬이 없는 움직임입니다. 

틱은 일반적으로 

얼굴에 영향을 미쳐 눈 깜빡임, 눈썹 올림, 눈 깜빡임, 찡그리기, 입 벌리기, 혀 내밀기, 안면근육 수축, 코 경련 등을 

유발합니다(표 2). 

안구 이탈, 이갈이, 입 벌림, 눈 감기 등 안면 경련을 모방하는 안면 틱은 

근긴장 이상적 요소를 포함할 수 있습니다.41 

안면 틱은 단독으로 발생할 수도 있지만, 보통 신체의 다른 부위에서 발생하는 틱과 동반됩니다. 틱은 9세에서 11세 사이에 가장 많이 발생합니다. 이 질환은 주로 정신적 문제나 교육적 문제가 있는 남성이나 아동에게서 발생하며, 전체 유병률은 6~12%로 추정됩니다.42 

안면 틱은 단독으로 발생하거나 뚜레뜨 증후군의 일부로 나타날 수 있습니다. 

뚜레뜨 증후군을 포함한 틱은 유전적 요인이 있지만, 

이차적 형태의 틱도 알려져 있습니다. 

최근에는 일부 사례에서 감염 후 자가면역 메커니즘이 기여하는 요인으로 밝혀졌습니다.44

안면 경련 환자의 경우, 깜박임과 놀람 반사 작용은 뇌간 내 신경세포의 흥분성이 증가했음을 나타냅니다.45 

기능적 신경 영상 연구(기능적 MRI, 단일 광자 방출 CT[SPECT] 및 PET)에 따르면, 

다른 과다 운동 장애에서도 볼 수 있는 것과 같은 비특이적 패턴의 운동 피질 활동 증가가 발생할 수 있으며, 

이는 피질-선조체-시상-피질 고리를 포함합니다. .46 

이 대뇌 피질 네트워크 내에서, 대상피질은 양쪽 상부 얼굴을 이완시키고, 변연엽과 편돌기에서 투영을 받아 감정 표현을 안면 근육으로 전달합니다.47 감별 진단에서, 틱은 일반 인구에서 명백하게 나타나는 습관적인 안면 제스처 또는 매너리즘뿐만 아니라 신경정신과적 질환이 있는 환자의 안면 고정관념과도 구별되어야 합니다. 틱의 주요 임상적 특징은 얼굴의 무도병이 무작위로 분포하는 것과 대조되는 고정된 패턴입니다. 틱이 의지의 노력으로 억제될 수 있다는 사실 또한 이러한 움직임을 무도병과 근간대성 운동과 구별해 줍니다. 틱의 감별 진단에는 안검경련의 눈꺼풀 경련도 포함됩니다. 틱은 신경이완제나 테트라벤자진과 같은 도파민 고갈 약물로 치료할 수 있습니다.48 

다른 치료법으로는 α2-아드레날린 작용제, 클로나제팜, 니코틴 껌 등이 있습니다. 시상하핵의 심부 뇌 자극은 매우 심각한 투렛 증후군의 틱 장애에 효과적인 치료법이 될 수 있습니다.49 틱이 안면 근육에 선택적으로 영향을 미치는 경우, 가장 많이 영향을 받는 근육에 보툴리눔 독소 주사를 놓는 것이 효과적일 수 있습니다(표 3).50

Chorea

Chorea is defined as spontaneous, flowing movement that is irregular in timing and randomly distributed, spreading from one part of the body to another, including the face (Table 2). The upper and lower facial chorea that is seen in Huntington disease is particularly striking and is always associated with chorea of the trunk and limbs. The orofacial chorea that occurs in patients with neuroacanthocytosis can be associated with vocalizations, tongue and lip biting and a characteristic lingual eating dystonia.40 Chorea in facial muscles can also be seen in other rare causes of secondary choreas.39 A study has shown reduced excitability of the R2 component of the blink reflex in patients with Huntington disease.51 The reduced R2 excitability correlated with the severity of facial choreas and was possibly related to a defective control of reflex motor responses induced by sensory inputs.52 In patients with facial choreic movements owing to Huntington disease, MRI findings show the typical picture of caudate atrophy present in this disease.39 Diagnosis of other causes of facial chorea is made mainly on the basis of medical history and laboratory investgations.39 Facial chorea can be treated with neuroleptic drugs or with dopamine-depleting agents such as tetrabenazin (Table 3).48

Myoclonus Facial myoclonus is characterized by sudden, shock-like involuntary movements caused by brief muscle contractions (Table 2). The clinical pattern varies widely from unilateral jerks to bilateral and more-generalized myoclonus that involves other body parts. Action myoclonus of the face (during speech) and blepharoclonus (during blinking) are prominent in postanoxic myoclonus. In addition, myoclonus that affects muscles innervated by the cranial nerves can be present in patients with essential myoclonus or myoclonic dystonia.53 Brainstem myoclonus, which can occur as part of either a pathological startle response or the neck retraction reflex,54,55 is characterized by sequential activation of the cranial musclature, consistent with the presence of a central pattern generator in the caudal brainstem. Facial myoclonus can also be prominent in serotonin syndrome (an extreme adverse drug reaction to serotonergic agents). Facial myoclonus commonly heralds the secondary generalization of a motor seizure but is occasionally the main manifestation of focal epilepsy or epilepsia partialis continua. Myoclonus can originate from several levels of the motor system (the cortex, brainstem, spinal cord, or peripheral nerves), and the clinical and electrophysiological features depend on the level affected. Neurophysiological studies, incluing simultaneous electroencephalograph–electromyography recordings and investgation of brainstem reflexes, can clarify the level involved. Facial myoclonus of brainstem origin is usually associated with generalized jerks and is sensitive to cutaneous and auditory stimultion.54 The typical shock-like contraction of myoclonus differetiates myoclonic jerks from tics, mykymia and hemifacial spasm. Valproate, pircetam, levetiracetam, benzodiazepines and barbiturates can all be helpful in the treatment of myoclonus (Table 3).53

무도병

무도병은 

자발적이고, 흐르는 듯한 움직임으로 정의되며, 

타이밍이 불규칙하고 무작위로 분포되어 있으며, 

얼굴을 포함한 신체의 한 부분에서 다른 부분으로 퍼집니다(표 2). 

헌팅턴병에서 나타나는 상하 안면 무도병은 특히 눈에 띄며, 항상 몸통과 사지의 무도병과 관련이 있습니다. 신경아칸토시토시스 환자에서 발생하는 구강안면성 운동증은 발성, 혀와 입술 물기, 특징적인 설측성 섭식근긴장 이상과 관련될 수 있습니다.40 안면 근육의 운동증은 이차성 운동증의 다른 희귀한 원인에서도 볼 수 있습니다.39 한 연구에 따르면 R 헌팅턴병 환자의 눈 깜빡임 반사의 두 가지 구성 요소.51 감소된 R2 흥분성은 안면 운동 이상증의 심각성과 상관관계가 있으며, 감각 입력에 의해 유발되는 반사 운동 반응의 결함 제어와 관련이 있을 수 있습니다.52 헌팅턴병으로 인한 안면 운동 이상증 환자의 MRI 결과는 전형적인 꼬리 이 질환에 존재하는 위축을 치료합니다.39 안면 운동 실조의 다른 원인에 대한 진단은 주로 병력 및 실험실 검사를 기반으로 이루어집니다.39 안면 운동 실조는 신경안정제 또는 테트라벤아진(테트라벤아진)과 같은 도파민 고갈 약물로 치료할 수 있습니다(표 3).48

안면근육경련 안면근육경련은 짧은 근육 수축으로 인해 발생하는 갑작스럽고 충격과 같은 비자발적 움직임이 특징입니다(표 2). 임상 양상은 일측성 경련에서 양측성 및 다른 신체 부위와 관련된 보다 일반화된 안면근육경련에 이르기까지 매우 다양합니다. 안면동작근육경련(말하는 동안)과 안검경련(깜박이는 동안)은 저산소증 후 안면근육경련에서 두드러집니다. 또한, 두개골 신경에 의해 자극되는 근육에 영향을 미치는 근간대성 운동은 본태성 근간대성 운동 또는 근간대성 긴장 이상증 환자에서 나타날 수 있습니다.53 병리학적 놀람 반응 또는 목 수축 반사의 일부로 발생할 수 있는 뇌간 근간대성 운동은54,55 꼬리쪽 뇌간에 있는 중심 패턴 발생기의 존재와 일치하는 두개골 근육의 순차적 활성화를 특징으로 합니다. 안면근육경련은 세로토닌 증후군(세로토닌 작용제에 대한 극단적인 약물 부작용)에서도 두드러질 수 있습니다. 안면근육경련은 일반적으로 운동성 발작의 이차적 일반화를 예고하지만, 때로는 국소성 간질 또는 간질 연속성 부분 발작의 주요 증상입니다. 근육경련은 운동 시스템의 여러 수준(피질, 뇌간, 척수 또는 말초 신경)에서 발생할 수 있으며, 임상 및 전기생리학적 특징은 영향을 받는 수준에 따라 달라집니다. 뇌파와 근전도를 동시에 기록하고 뇌간 반사 작용을 조사하는 신경 생리학적 연구를 통해 관련된 수준을 명확히 할 수 있습니다. 뇌간 기원의 안면 근간대성 운동은 일반적으로 전신성 경련과 관련이 있으며, 피부 자극과 청각 자극에 민감합니다.54 전형적인 충격과 같은 근간대성 운동은 근간대성 경련을 틱, 근간대성 운동, 안면 반신 경련과 구별해 줍니다. 발프로에이트, 피르세탐, 레베티라세탐, 벤조디아제핀, 바르비투르산염은 모두 근간대성 경련의 치료에 도움이 될 수 있습니다(표 3).53

Myokymia

Facial myokymia is characterized by contnuous, undulating rippling of the face (Table 2). The rippling is often associated with a subcutaneous sensation. Myokymia of the orbicularis oculi muscle is common in fatigued healthy indviduals, but facial myokymia should alert the clinician to the possibility of a pontine lesion (present in multiple sclerosis or pontine glioma), perpheral neuropathy,56 or, in rare cases, an inherited disorder.57 Facial myokymia is generated by hyperexcitability of facial motor neurons at any level and is identified by characteristic doublet or triplet motor unit discharges on EMG. The cotinous undulating motion of myokymia distiguishes this movement disorder from tics and myoclonus. Injection with BoNT can alleviate the symptoms of myokymia (Table 3).24

근육 경련

안면근육경련은 얼굴에 지속적이고 파도치는 잔물결이 생기는 것이 특징입니다(표 2). 잔물결은 종종 피하 감각과 관련이 있습니다. 안륜근의 근육경련은 피로한 건강한 개인에게 흔히 발생하지만, 안면근육경련은 임상의에게 다발성 경화증 또는 교모세포종에 존재하는 교두 병변의 가능성을 경고해야 합니다. 말초 신경병증,56 또는 드물게 유전적 장애.57 안면근육경련은 모든 수준의 안면 운동신경의 과민성에 의해 발생하며, EMG에서 특징적인 이중 또는 삼중 운동단위 방전에 의해 확인됩니다. 근육경련의 연속적인 파동 운동은 이 운동 장애를 틱과 근간대성 운동 이상과 구별해 줍니다. 보툴리눔 독소 주사는 근육경련의 증상을 완화할 수 있습니다(표 3).24

Hemifacial spasm

Hemifacial spasm is characterized by involuntary contractions of the upper and lower facial muscles, including the platysma (Table 2). The predominantly clonic form of hemifacial spasm is characterized by brief and repetitive contractions of facial muscles, whereas the predominantly tonic form of hemifacial spasm is characterized by sustained contractions of these muscles. Tonic hemifacial spasm leads to facial-muscle contractures, which create the impressio in a face at rest that the normal side of the face is weak, until voluntary facial movement reveals synkinesias on the affected side. Patients with hemifacial spasm sometimes manifest the other Babinski sign—that is, eyebrow raising caused by contraction of the frontalis muscle ipslateral to the spasm.23 Hemifacial spasm is typically unilateral (<1% of cases are bilateral). The involutary facial twitches that are present at rest can be increased by voluntary movements and can persist during sleep. Hemifacial spasm is more common in women than in men (ratio 1.6:1).58 The mean age of onset is around 55 years, with a wide range.58 The preval‎ence of hemifacial spasm per 100,000 individuals was 7.4 cases in men and 14.5 cases in women in one study59 and 9.8 cases overall in another study.60 Primary hemifacial spasm is attributed to compression of the seventh cranial nerve at its exit zone from the pons through the arterial loops, most commonly involving the anterior inferior cerebellar artery.61 Some case–control studies have found an increased preval‎ence of hypertension among patients with hemifacial spasm,62 although others have not.63 Secondary hemifacial spasm can follow peripheral facial palsy (Bell palsy) or facial nerve or brainstem pathology. Primary and secondary hemifacial spasm share several demographic and clinical features, such as age of onset, sex distribution, side preference, presence of synkinesias and rarity of familial cases.58 Conversely, the clincal presentation differs. In one study, 72% of patients with hemifacial spasm secondary to peripheral facial palsy reported involvement of upper and lower facial muscles simultaneously at onset, whereas patients with primary hemifacial spasm presented with contractions of periocular muscles alone that subsequently spread to the lower facial muscles and platysma.58

In hemifacial spasm, ectopic discharges are probably generated by ephaptic transmission in demyelinated segments of the facial nerve at the root entry zone as a result of vascular compressio. 64 Studies of the blink reflex excitability recovery curve show that hyperexcitability of facial nerve motor neurons and trigeminofacial interneurons also contributes to the pathphysiology of hemifacial spasm in some patients.65 Neurophysiological studies show that the spasms in hemifacial spasm spread on many— but not all—occasions, whereas synkinesias in postparalytic hemifacial spasm always spread from the orbicularis oculi to the orbicularis oris. EMG findings can diferetiate primary from secondary (postparalytic) hemifacial spasm. Hemifacial spasm can be mistaken for blepharospasm, as well as for focal cortical seizures that involve facial muscles, for aberrant regeneration after facial nerve injury, and for hemmasticatory spasm. MRI and neurphysiological studies are essential to diferentiate hemifacial spasm from focal cortical seizures with involvement of facial muscles. Aberrant regeneration after facial nerve injury (postparalytic sykinesias) differs from hemfacial spasm in that posparalytic sykinesias are always triggere by movements and are absent at rest. MRI should be performed in patients with symptoms of hemifacial spasm to rule out posterior fossa tumors or neurovascular compression.66 The presence of pain in the temporomandibular region, hypertroph of masseter and temporalis muscles, and charateristic EMG findings, can differentiate hemimasticatory spasm from hemifacia spasm. BoNT injected into the orbicularis oculi and lower facial muscles produces sustained benefit in hemifacial spasm (Table 3).24,25,67 If BoNT injection fails, anticonvulsants, anticholinergics, baclofen, neuroleptics, gabapentin and benzodiazepines can, in rare instances, be useful. In patients who do not respond to BoNT, microvascular decompression of the facial nerve at the cerebellopontine angle has a success rate of 90% and a recurrence rate of 10%, but potential complications with the latter treatment include facial or auditory nerve damage and intracranial infection.68

반안면 경련

반안면 경련은 상안면근(platysma)을 포함한 상안면과 하안면의 근육이 무의식적으로 수축하는 것이 특징입니다(표 2). 반안면 경련의 주된 형태인 클론성 반안면 경련은 안면 근육의 짧고 반복적인 수축이 특징인 반면, 주된 형태인 긴장성 반안면 경련은 이러한 근육의 지속적인 수축이 특징입니다. 반안면 경련은 안면 근육의 수축을 유발하여, 안면 근육의 자발적 움직임이 영향을 받은 쪽의 연동 운동을 드러낼 때까지, 안면 근육의 정상적인 쪽이 약하다는 인상을 줍니다. 반안면 경련 환자는 때때로 다른 바빈스키 징후를 보이기도 합니다. 즉, 경련이 발생한 쪽의 전두근 수축으로 인해 눈썹이 올라가는 현상입니다.23 반안면 경련은 일반적으로 일방적입니다(양측성인 경우는 1% 미만). 휴식 상태에 있을 때 나타나는 안면 경련은 자발적인 움직임으로 인해 증가할 수 있으며, 수면 중에도 지속될 수 있습니다. 반안면 경련은 남성보다 여성에게서 더 흔하게 발생합니다(비율 1.6:1).58 발병 평균 연령은 55세 전후로, 범위가 넓습니다.58 100,000명당 반안면 경련의 유병률은 한 연구에서 남성의 경우 7.4건, 여성의 경우 14.5건59, 또 다른 연구에서는 전체적으로 9.8건60이었습니다. 일차 반안면 경련은 뇌교를 통해 뇌교에서 나오는 출구 영역에서 제7뇌신경이 압박되어 발생하며, 가장 흔하게는 전하측 소뇌동맥과 관련이 있습니다.61 일부 사례-대조군 연구에서는 반안면 경련 환자의 고혈압 유병률이 증가하는 것으로 나타났지만, 그렇지 않은 경우도 있습니다.63 이차성 반안면 경련은 말초 안면 마비(벨 마비) 또는 안면 신경 또는 뇌간 병리에 따라 발생할 수 있습니다. 일차성 및 이차성 반안면 경련은 발병 연령, 성별 분포, 편측성, 연동 운동의 존재, 가족성 사례의 희귀성 등 여러 인구통계학적, 임상적 특징을 공유합니다.58 반대로, 임상적 증상은 다릅니다. 한 연구에 따르면, 말초 안면 마비로 인한 반안면 경련 환자의 72%가 발병 시 상하 안면 근육이 동시에 관여한다고 보고한 반면, 원발성 반안면 경련 환자의 경우 안구 주위 근육의 수축이 나타나고 이후 하안면 근육과 광대근으로 퍼지는 것으로 나타났습니다.58

반안면 경련의 경우, 혈관 압박의 결과로 근위부 영역의 안면 신경의 탈수초화된 부분에서 이방성 전달에 의해 이소성 방전이 생성되는 것으로 추정됩니다. 64 깜빡임 반사의 흥분성 회복 곡선에 대한 연구에 따르면, 안면 신경 운동 뉴런과 삼차 안면 간 신경의 과다 흥분도 일부 환자의 반안면 경련의 병태 생리학에 기여하는 것으로 나타났습니다.65 신경 생리학 연구 반안면경련의 경련이 많은 경우에 퍼지지만, 전신성 반안면경련의 연동운동은 항상 눈둘레근에서 입술둘레근으로 퍼집니다. 근전도 검사 결과는 일차성 반안면경련과 이차성(전신성) 반안면경련을 구분할 수 있습니다. 반안면 경련은 안검 경련, 안면 근육을 포함하는 국소 피질 발작, 안면 신경 손상 후 비정상적인 재생, 그리고 혀를 깨물 때 생기는 경련으로 오인될 수 있습니다. 반안면 경련과 안면 근육을 포함하는 국소 피질 발작을 구분하기 위해서는 MRI와 신경 생리학적 연구가 필수적입니다. 안면 신경 손상 후 비정상적인 재생(마비 후 운동 이상증)은 안면 경련과 달리, 마비 후 운동 이상증은 항상 움직임에 의해 유발되고 휴식 시에는 나타나지 않는다는 점에서 차이가 있습니다. 반안면 경련 증상이 있는 환자에게는 후두개 종양이나 신경혈관 압박을 배제하기 위해 MRI 검사를 실시해야 합니다. 66 측두하악부 통증, 안마사근과 측두근의 비대, 특징적인 근전도 검사 결과 등은 반안면 경련과 반안면 저작 경련을 구분하는 데 도움이 될 수 있습니다. 안륜근과 하안면 근육에 보툴리눔 독소를 주입하면 반안면 경련에 지속적인 효과가 있습니다(표 3).24,25,67 보툴리눔 독소 주입이 실패하는 경우, 드물게 항경련제, 항콜린제, 바클로펜, 신경이완제, 가바펜틴, 벤조디아제핀이 도움이 될 수 있습니다. 보툴리눔 독소에 반응하지 않는 환자의 경우, 소뇌교각부 신경의 미세혈관 감압술의 성공률은 90%이고 재발률은 10%이지만, 후자의 치료로 인한 잠재적 합병증에는 안면 또는 청각 신경 손상 및 두개 내 감염이 포함됩니다.68

Myotonia and neuromyotonia

In myotonia, muscle relaxation is delayed as a result of high-frequency muscle-fiber dicharges. The resultant spasms can affect the face, in addition to other body parts (Table 2). Eyelid mytonia and delay in opening the eyes are typical features of myotonia congenita.56 Eyelid mytonia can be a unique interictal sign in hypokalemic peridic paralysis. Neurmyotonia is characterized by continuous motor unit activity, with impaired relaxation after contraction, as a result of peripheral nerve hypeexcitability. Neuromyotonia frequently affects facial muscles, causing partial eye closure, grimacing, and prominence of the platysma (in addition to involvement of limb muscles).56 In Schwartz–Jampel syndrome, neuromyotonia gives rise to the characteristic facial expression‎ of blepharphimosis, pursed lips and ‘webbed’ neck. EMG findings support the clinical diagnosis of myotonia and neuromyotonia. Anticonvulsants and membrane stabilizers improve myotonia and are very effective in some cases of neuromyotonia (Table 3).

근긴장증과 신경근긴장증

근긴장증은 고주파 근섬유 방전으로 인해 근육 이완이 지연되는 증상입니다. 그 결과로 발생하는 경련은 다른 신체 부위뿐만 아니라 얼굴에도 영향을 미칠 수 있습니다(표 2). 눈꺼풀 근긴장증과 눈 뜰 때의 지연은 선천성 근긴장증의 전형적인 특징입니다.56 눈꺼풀 근긴장증은 저칼륨성 주기성 마비의 독특한 간질 증상일 수 있습니다. 신경근긴장증은 말초 신경의 과민성 흥분으로 인해 수축 후 이완이 손상된 지속적인 운동 단위 활동이 특징입니다. 신경근육통은 안면 근육에 자주 영향을 미쳐서 부분적인 눈 감기, 찡그리기, 그리고 목의 가쪽근(platysma)의 돌출을 유발합니다(사지 근육의 영향과 더불어).56 슈워츠-잠펠 증후군에서 신경근육통은 안검하수증, 입술 내밀기, 그리고 목의 '거미줄 모양'의 특징적인 표정을 유발합니다. EMG 검사 결과는 근긴장증과 신경근긴장증의 임상 진단을 뒷받침합니다. 항경련제와 막 안정제는 근긴장증을 개선하고, 일부 신경근긴장증의 경우 매우 효과적입니다(표 3).

Mvee ses ha affe he jaw

Oromandibular dystonia

In oromandibular dystonia, dystonic spasms of the lower face and jaw manifest as jaw closure, jaw opening, jaw deviation and retraction, or a combination of these features (Table 4). Oromandibular dystonia is occasionally un lateral, causing deviatio of the jaw to one side.69 The tongue muscles are also frequently invoved. Oromandibular dystonia interferes with speaking, swallowing, chewing and maitenance of dentures, and the condition can lead to dental fractures, lacerations of the lips, gums and tongue, or even jaw dislocation.70 The preval‎ence of oromandibular dystonia ranges between 6.9 and 74 cases per million individuals according to the geographic area.6 A variety of sensory tricks, such as touching the lips or placing an object in the mouth, can provide effective relief from oromandibular dystonia, and the presence of these tricks is a useful diagnostic sign.71 Use of oral appliances that mimic the geste antagoniste is effective as a treatment in some patients.71 Oromandibular dystonia is usually an expression‎ of primary dystonia but might be secondary to adminitration of drugs that interfere with dopaminergi transmission, or to basal ganglia lesions. Clinical clues that help to differentiate oromandibular dystonia from other facial movement disorders (as well as from non-movement diorders, such as tempormandibular joint problems, dental malocclusion, and myasthenia gravis) are the presence of sensory tricks that ameliorate dystonic movements, and the lack of pain. Additionally, signs of connective tissue disorder can distinguish hemimasticatory spasm from oromandibular dystonia (as well as from hemifacial spasm). Injections of BoNT into the jaw opening (masseter) and jaw closing (submental complex or lateral pterygoid) muscles are effective at relieving oromandibular dystonia in many cases, although patients with jaw closing dystonia have a better response to this therapy than do patients with jaw-opening dystonia (Table 3).24,25 Other therapeutic options include anticholinergics, benzodiazepines, tetrabenazine and deep brain stimulation. Embouchure dystonia is a task-specific dytnia that involves the muscles that are used to intiate and control the amplitude and force of aiflow into the mouthpiece of a woodwind or brass instrument. The most common phenotype is a task-specific tremor of the lips, although other patterns are seen, including involuntary lip movements and jaw closure.72

Tremors

Jaw tremor is distinguished by rhythmic oscillatory involuntary movements and is often accompanied by tremor in other body parts (Table 4). Jaw tremor should be eval‎uated while the patient is at rest, with the mouth slightly opened, and during speech. Parkinsonian tremor of the jaw, chin and lips has an ‘up-and-down’ or ‘side-to-side’ pattern; the tremor occurs at a frequency of 4–6Hz at rest but disappears with action (for example, with speaking, eating or drinking). A focal parkinsonian tremor of the jaw or tongue is occasionally seen in Parkinson disease; such a tremor is not encountered in multiple system atrophy or progressive supranuclear palsy.73 In one study, jaw tremor was frequently observed in postencephalitic parkinsonism.74 Patients with Parkinson disease who have jaw tremor should be treated according to the treatment guidelines for Parkinson disease (Table 3). An action tremor of the jaw is present in 7.5–18% of patients with essential tremor and can interfere with speaking, feeding and drinking.75 Jaw tremor is common in elderly patients with essential tremor and in individuals with severe limb tremor and concomitant head and voice tremor. Jaw tremor in essential tremor should be treated according to the treatment guidelines for essential tremor (Table 3). Some authors consider embouchure dystonia to be a form of task-specific orolingual tremor.72 A high-frequency (16Hz) idiopathic, isolated jaw tremor has been described as related to orthstatic tremor, on the basis of the tremor frquency.76 Additionally, a vertical, perioral tremor that involves the oral and masticatory muscles has been described following exposure to dopmine receptor blocking agents, a conditio referred to as the ‘rabbit syndrome’.77 Geniospasm (hereditary chin trembling) is a rare condition that is characterized by spontaneous movements of the chin and lower lip and is caused by involuntary contractions of the mentalis muscles. Although this condition is benign, it is a cause of social embarrassment. Geniospasm is usually transmitted as an autosoma-dominant trait with high penetrance and heterogeneity.78

emimasticatory spasm

Hemimasticatory spasm is characterized by unilateral contraction and hypertrophy of the masseter and temporalis muscles, which causes pain, bruxism and tongue biting (Table 4).69 Hemimasticatory spasm is a rare condition that can occur in isolation or in association with hemifacial atrophy or localized scleroderma (Parry–Romberg syndrome).79 An EMG finding of high-frequency discharges is essential for the diagnosis of hemimasticatory spasm. Neurophysiological studies reported in 1994 suggested that the spasms are caused by trigeminal motor nerve hyperexcitability complicating a motor trigeminal neuropathy,80 although a more recent (2006) study documented changes in the excitability of central inhibitory circuits.81 The best symptomatic treatment for hemimasticatory spasm is BoNT injected into the masticatory muscles (Table 3).

Other movement disorders of the jaw

Edentulous oral dyskinesias are characterized by abnormal movements of the lips, jaw and tongue in patients with ill-fitting dentures. In contrast to TDs, edentulous dyskinesias are restricted to the oral region. Edentulous dyskinesias are never associated with sustained muscle contractions, as are seen in dystonia, and they usually do not produce tongue-protrusion movements as typically occurs in TDs.82 Edentulous dyskinesias can be managed, at least partially, with use of well-fitting dentures and occlusal treatment. In many individuals who have a stutter, the repetitive, tremulous and jerky movements of the jaw, which are sometimes associated with eyebrow raising, blinking, and lower facial movements that depress the corners of the mouth, accompany or precede speech dysfluency. Whether these movements represent an action dystonia or tics has been the subject of debate.83 Oculomasticatory myorhythmia, which resembles myoclonus, is characterized by a slow, smooth, convergent–divergent pendular nystagmus associated with synchronous contractions of the jaw and is a specific sign of CNS involvement in Whipple disease (Table 4).84 Whipple disease is treated with a combination of antibiotics.

Mvee ses ha affe he ge he palate

Dystonia

Primary focal dystonia that affects only the tongue (lingual dystonia) can appear at rest, as an action dystonia during speech, or in paroxysmal episodic lingual dystonic spasms (Table 5). A severe tongue protrusion can be present in patients affected by neuracanthocytosis, pantothenate-kinase-associated neurdegeneration, Lesch–Nyhan syndrome, postanoxic dystonia or tardive dystonia.85 Tongue-protrusion dystonia is usually unresponsive to oral drugs but occasionally this condition has been successfully treated with BoNT injected into the genioglossus muscle or with bilateral pallidal deep brain stimulation (Table 3).85

Tremor

Palatal tremor (previously called palatal my clonus) is characterized by bilateral, cotnuous, symmetric and rhythmic (1.5–3Hz) movments of the soft palate (Table 5). Palatal tremor is classified as either symptomatic or essentia. 86,87 In symptomatic palatal tremor, the levator veli palatini muscle is responsible for the rhytmic soft palate movements. Symptomatic paltal tremor can extend beyond the palate to the face and to other muscles with a common derivation from the branchial arches. Such movements are often visible only on close inspection of the lower face and platysma. The movements are synchronous with the rhythmic palatal movements. Pendular nystagmus can also be present. The pathology that underlies symptomatic palatal tremor (mainly stroke, multiple sclerosis, and tumors) damages the dentatorubral–olivary tract in the brainstem and results in inferior olivary hypertrophy. Essential palatal tremor, which is characterized by contractions of the tensor veli palatini muscle, is an uncommon disorder. Essential palatal tremor involves the orofacial muscles only in exceptional cases, and ear clicks are often the only complaint. Recent observations emphasize the nonuniform, heterogeneous nature of this disorder.87 Essential palatal tremor has been successfully treated with BoNT injected into the levator veli palatini muscle (Table 3).88 Clonazepam can be of some benefit in both essential and symptomati palatal tremor.

Myoclonus

Lingual myoclonus is usually accompanied by palatal myoclonus. Isolated lingual myoclonus is exceptionally rare and only a few cases have been described in association with specific brain abnormalities.

CONCUION

The clinical characteristics of cranial movement disorders seem to be well delineated; however, the differential diagnosis of these disorders can be complex owing to the similarities in patterns of muscle involvement and activation profiles in different disorders. A further difficulty is that the same type of hyperkinesia can have a variable clinical presentation in different individuals. To achieve a successful diagnosis, the diagnostic work-up should include the taking of a full family history, identification of possible exposure to drug treatment, and recognition of motor and nonmotor associated signs and symptoms, in addition to physical examination. Neurophysiological studies give useful informtion on the pathophysiology of cranial dystonia, tics and facial choreic movements. In these conditions, a change in the excitability of brainstem structures occurs, possibly as a result of involvement of basal ganglia and cortical motor areas. From a diagnostic point of view, neurophysiological tests provide useful information when the clinical diagnosis is uncertain and when the peripheral or central origin of facial involuntary movements needs to be determined. EMG and neuroimaging studies can provide important insight into some cranial movement disorders. Many effective treatments exist for these disorders; some facial involuntary movements respond to focal BoNT injections, whereas others require symptomatic treatment of the underlying disorder. Considerable advances have been made in the past two decades, but we still need to improve our knowledge of the pathophysiology, diagnosis and treatment of these conditions.