Myopathies presenting with head drop: Clinical spectrum and treatment outcomes |
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| Affiliation: | 1. Department of Ophthalmology, Università Cattolica del Sacro Cuore, Largo F. Vito 1, Rome, Italy;2. Department of Ophthalmology, Fondazione Policlinico A. Gemelli IRCSS, Largo A. Gemelli 8, Rome, Italy;3. Institute of Neurology, Università Cattolica del Sacro Cuore, Largo F. Vito 1, Rome, Italy;4. Area Neuroscienze, Fondazione Policlinico A. Gemelli IRCSS, Largo A. Gemelli 8, Rome, Italy;1. Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, 20 Chazhong Road, Fuzhou, Fujian 350005, China;2. Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China;1. King''s College London, Randall Centre for Cell and Molecular Biophysics, New Hunt''s House, Guy''s Campus, London SE1 1UL, UK;2. Faculty of Medicine, Imperial College London, Level 2, Faculty Building, South Kensington Campus, London SW7 2AZ, UK;3. John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Centre for Life, Newcastle NE1 3BZ, UK;1. Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium;2. Department of (Neuro)Pathology, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;3. Department of Neurology, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;4. Brigham and Women''s Hospital, Harvard Medical School, Boston, USA;5. Academic Medical Center, Amsterdam, The Netherlands;6. Hôpital Pitié-Salpétrière, Paris, France;7. Ghent University Hospital, Belgium;8. Kansas University Medical Centre, Kansas City, USA;9. Université Paris Est, Creteil, France;10. Mainz University Medical Centre, Mainz, Germany;11. John Radcliffe Hospital, Headington Oxford, UK;12. University College London, London, UK;13. Karolinska Institutet, Stockholm, Sweden;14. Johns Hopkins University, Baltimore, USA;15. University of Western Australia, Perth, Australia;p. National Center of Neurology and Psychiatry, Kodaira Tokyo, Japan;q. Zurich University Hospital, Zurich, Switzerland;r. Odense University Hospital, Odense, Denmark;s. Mayo Clinic, Rochester, MN, USA;t. Charité University, Berlin, Germany;1. Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041, China;2. Department of Neurology, Chinese PLA General Hospital, 28 Fu Xing Road, Beijing 100853, China;3. Department of Neurology, the First Hospital of Shanxi Medical University, 85 Jiefang South Road, Taiyuan 030001, China;4. Department of Emergency, Chinese Armed Police General Hospital, 69 Yong Ding Road, Beijing 100039, China |
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| Abstract: | Dropped head syndrome can be the presenting feature of a wide spectrum of neurological conditions. In this study, we aimed to define the clinical characteristics and treatment outcomes of 107 patients, where head drop was the presenting or predominant clinical feature of a myopathy. Median age at presentation was 68 years (range 42–88). A specific diagnosis was reached in 53% of patients: Inflammatory myopathy (n = 16), myopathy with rimmed vacuoles (n = 10), radiation-induced myopathy (n = 8), sporadic late-onset nemaline myopathy (n = 7), myofibrillar myopathy (n = 4), facioscapulohumeral dystrophy (n = 3), inclusion body myositis (n = 2), mitochondrial myopathy (n = 2), scleroderma-associated myopathy (n = 2), and single cases of necrotizing autoimmune myopathy, drug-induced myopathy, and B-cell chronic lymphocytic leukemia-myopathy. Splenius capitis had the highest diagnostic yield for a muscle biopsy (67%). When tested, 31/35 (89%) of patients had abnormal pulmonary function tests, 15/30 (50%) abnormal swallow evaluation, 24/65 (37%) abnormal electrocardiogram and 5/38 (13%) abnormal transthoracic echocardiogram. 23/43 (53%) treated patients responded to treatment. Patient-reported limb weakness and neck flexion weakness on physical examination were associated with good response to treatment. A wide spectrum of acquired and hereditary myopathies can present with head drop, some of which are potentially treatable. Establishing a diagnosis is crucial for timely treatment administration, screening for swallowing and cardiorespiratory involvement, and counseling regarding prognosis. |
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