Objectives Characterize the presentation, workup, and management of SGCE myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities. Methods A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT-SGCE that account for only half of the total myoclonus-dystonia patients. As such, this case required intensive genetic analyses rather than screening only for a small subset of well-characterized mutations. Results Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the SGCE gene, resulting in a diagnosis of SGCE myoclonus-dystonia. Discussion Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.
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Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Univ Paris 06, Ctr Natl Rech Sci, Unite Mixte Rech 7102, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Roze, E.
Apartis, E.
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St Antoine Hosp, AP HP, Dept Physiol, Paris, France
Univ Paris 06, INSERM, U732, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Apartis, E.
Clot, F.
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Univ Paris 06, INSERM, U679, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Clot, F.
Dorison, N.
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Trousseau Hosp, AP HP, Dept Child Neurol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Dorison, N.
Thobois, S.
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Pierre Wertheimer Hosp, Dept Neurol, Lyon, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Thobois, S.
Guyant-Marechal, L.
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Rouen Hosp, Dept Neurol, Rouen, France
Rouen Hosp, INSERM, U614, Rouen, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Guyant-Marechal, L.
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Tranchant, C.
Damier, P.
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Nantes Univ Hosp, INSERM, CIC04, Nantes, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Damier, P.
Doummar, D.
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Trousseau Hosp, AP HP, Dept Child Neurol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Doummar, D.
Bahi-Buisson, N.
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Hop Necker Enfants Malad, Dept Child Neurol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Bahi-Buisson, N.
Andre-Obadia, N.
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Pierre Wertheimer Hosp, Dept Neurol, Lyon, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Andre-Obadia, N.
Maltete, D.
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Rouen Hosp, Dept Neurol, Rouen, France
Rouen Hosp, INSERM, U614, Rouen, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Maltete, D.
Echaniz-Laguna, A.
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Strasbourg Univ Hosp, Dept Neurol, Strasbourg, France
Univ Strasbourg, INSERM, U692, Strasbourg, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Echaniz-Laguna, A.
Pereon, Y.
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Univ Hosp, Reference Ctr Neuromuuscular Dis, Nantes, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Pereon, Y.
Beaugendre, Y.
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St Antoine Hosp, AP HP, Dept Physiol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Beaugendre, Y.
Dupont, S.
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Grp Hosp Pitie Salpetriere, AP HP, Epilepsy Unit, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Dupont, S.
De Greslan, T.
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Val Grace Hosp, Dept Neurol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
De Greslan, T.
Jedynak, C. P.
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Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Jedynak, C. P.
Ponsot, G.
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Trousseau Hosp, AP HP, Dept Child Neurol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Ponsot, G.
Dussaule, J. C.
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St Antoine Hosp, AP HP, Dept Physiol, Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Dussaule, J. C.
Brice, A.
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Univ Paris 06, INSERM, U679, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Brice, A.
Duerr, A.
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Univ Paris 06, INSERM, U679, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Duerr, A.
Vidailhet, M.
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Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
Univ Paris 06, INSERM, U679, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France
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Inje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Kim, Ji-Young
Lee, Woong-Woo
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Eulji Univ, Eulji Gen Hosp, Coll Med, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Lee, Woong-Woo
Shin, Chae Won
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Seoul Natl Univ, Borame Med Ctr, Seoul Metropolitan Govt, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Shin, Chae Won
Kim, Han-Joon
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Kim, Han-Joon
Park, Sung-Sup
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Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Lab Med, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Park, Sung-Sup
Chung, Sun Ju
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Univ Ulsan, Coll Med, Asan Med Ctr, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Chung, Sun Ju
Cho, Jin Whan
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Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Cho, Jin Whan
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Ryu, Ho-Sung
Son, Tae Ok
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Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
Son, Tae Ok
Jeon, Beomseok
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Neurol, Seoul, South KoreaInje Univ, Seoul Paik Hosp, Dept Neurol, Seoul, South Korea
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Chang Gung Univ, St Pauls Hosp, Dept Neurol, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Huang, Chia-Ling
Lan, Min-Yu
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Chang Gung Univ, Chang Gung Mem Hosp, Kaohsiung Med Ctr, Dept Neurol, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Lan, Min-Yu
Chang, Yung-Yee
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Chang Gung Univ, Chang Gung Mem Hosp, Kaohsiung Med Ctr, Dept Neurol, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Chang, Yung-Yee
Hsu, Chia-Yu
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Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Hsu, Chia-Yu
Lai, Szu-Chia
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Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Lai, Szu-Chia
Chen, Rou-Shayn
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Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Chen, Rou-Shayn
Chang, Hsiu-Chen
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Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Chang, Hsiu-Chen
Lu, Chin-Song
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Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan
Lu, Chin-Song
Wu-Chou, Yah-Huei
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Chang Gung Univ, Chang Gung Mem Hosp, Human Mol Genet Lab, Linko Med Ctr, Tao Yuan, TaiwanChang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Movement Disorder Div, Tao Yuan, Taiwan