Vidailhet Marie, Roze Emmanuel, Maugest Lucie, Gallea Cécile
Institut National de la Santé et de la Recherche Médicale (INSERM), U 1127, F-75013 Paris, France ; Centre National de la Recherche Scientifique (CNRS), UMR 7225, F-75013 Paris, France ; Sorbonne Universités, UPMC University Paris 06, UMR S 1127, F-75013 Paris, France ; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France ; Assistance Publique Hôpitaux de Paris (APHP), Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière, F-75013 Paris, France ; Department of Neurology, Salpetriere Hospital, Bd de l'Hopital, 75013 Paris, France.
Institut National de la Santé et de la Recherche Médicale (INSERM), U 1127, F-75013 Paris, France ; Centre National de la Recherche Scientifique (CNRS), UMR 7225, F-75013 Paris, France ; Sorbonne Universités, UPMC University Paris 06, UMR S 1127, F-75013 Paris, France ; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France ; Assistance Publique Hôpitaux de Paris (APHP), Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
J Clin Mov Disord. 2017 Jan 12;4:1. doi: 10.1186/s40734-016-0048-5. eCollection 2017.
Primary orthostatic tremor is a rare disorder that is still under-diagnosed or misdiagnosed. Motor symptoms are fairly characteristics but the real impact on the patient's every day life and quality of life is under-estimated. The "how my patients taught me" format describes the impact on the patients' every day life with their own words, which is rarely done.
A 46 year old lady was diagnosed primary orthostatic tremor (POT) based on the cardinal symptoms: feelings of instability, leg tremor and fear of falling in the standing position, improvement with walking and disappearance while sitting, frequency of Tremor in the 13-18Hz range, normal neurological examination. She gives illustrative examples of her disability in every day life activity (shower, public transportation, shopping). She reports how she felt stigmatized by her "invisible disorder". As a consequence, she developed anxiety depression and social phobia. All these troubles are unknown or under recognized by doctors and family.
We review the clinical signs of POT that may help to increase the awareness of doctors and improve the diagnosis accuracy, based on the motor symptoms and description of the every day life disability, as reported by the patient. Non-motor symptoms (including somatic concerns, anxiety, depression, and social phobia) should be better considered in POT as they have a major impact on quality of life. Pharmacological treatments (clonazepam, gabapentin) may be helpful but have a limited effect over the years as the patients experience a worsening of their condition. On the long term follow-up, there are still unmet needs in POT, and new therapeutic avenues may be based on the pathophysiology by modulating the cerebello-thalamo-cortical network.
原发性直立性震颤是一种罕见疾病，目前仍存在诊断不足或误诊的情况。运动症状相当典型，但对患者日常生活和生活质量的实际影响却被低估。“患者如何教会我”这种形式用患者自己的话描述了对其日常生活的影响，而这种做法很少见。
一名46岁女性基于主要症状被诊断为原发性直立性震颤（POT）：站立时不稳定感、腿部震颤以及害怕摔倒，行走时症状改善，坐下时症状消失，震颤频率在13 - 18赫兹范围，神经系统检查正常。她列举了日常生活活动（洗澡、乘坐公共交通工具、购物）中残疾的实例。她讲述了自己如何因“隐形疾病”而感到被污名化。结果，她患上了焦虑抑郁和社交恐惧症。所有这些问题医生和家人都不了解或认识不足。
我们根据患者报告的运动症状和日常生活残疾描述，回顾了可能有助于提高医生认识并改善诊断准确性的POT临床体征。POT应更好地考虑非运动症状（包括躯体担忧、焦虑、抑郁和社交恐惧症），因为它们对生活质量有重大影响。药物治疗（氯硝西泮、加巴喷丁）可能有帮助，但多年来效果有限，因为患者病情会恶化。在长期随访中，POT仍有未满足的需求，新的治疗途径可能基于调节小脑 - 丘脑 - 皮质网络的病理生理学。
