Myopathies presenting with head drop: Clinical spectrum and treatment outcomes

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.