Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study.

OBJECTIVES: Inaugural axial muscle involvement, defined as dropped head syndrome (DHS) and/or camptocormia (CC), is poorly described in inflammatory myopathies (IM). This study aimed to further characterize IM patients with inaugural DHS/CC, their outcome and care management. METHODS: This retrospective study included IM patients diagnosed between 2000 and 2021. The main inclusion criterion was IM revealed by axial muscle deficit (DHS/CC). RESULTS: Twenty-seven patients were included; median (IQR) age at first symptoms was 66.0 years (55.5-75.0); 21 were female (77.8%). There were nine IBM, 33.3%, nine overlap myositis (OM, 33.3%), five DM, 18.5%, two immune checkpoint inhibitor-related myositis (7.4%), one focal myositis (3.7%) and one myositis with anti-Hu antibodies (3.7%). Age at first symptoms was ≤70 years in 16 patients (59.3%), including all DM patients and 8/9 OM patients (88.9%). In this group, partial remission of the disease was obtained in 9/16 (56.3%) and complete remission in 1/16 patients (6.3%); regression of DHS/CC was achieved in 3/16 patients (18.8%). Conversely, in the group of 11 patients aged >70 years at first symptoms, there were eight IBM (72.7%). Partial remission was obtained in 5/11 patients (45.5%), the disease was stable in 6/11 patients (54.5%); no complete remission was obtained nor regression of DHS/CC. CONCLUSION: The analysis of IM patients with inaugural DHS/CC delineates two groups of patients according to the age at first symptoms in terms of clinical and outcome specificities, and proposes an adapted diagnostic and care management approach to prevent long-term complications.

Magnetic resonance imaging findings in patients with dropped head syndrome.

BACKGROUND: Dropped head syndrome (DHS) is difficult to diagnose only by clinical examination. Although characteristic images on X-rays of DHS have been studied, changes in soft tissue of the disease have remained largely unknown. Magnetic resonance imaging (MRI) is useful for evaluating soft tissue, and we therefore performed this study with the purpose of investigating the characteristic signal changes of DHS on MRI by a comparison with those of cervical spondylosis. METHODS: The study involved 35 patients diagnosed with DHS within 6 months after the onset and 32 patients with cervical spondylosis as control. The signal changes in cervical extensor muscles, interspinous tissue, anterior longitudinal ligament (ALL) and Modic change on MRI were analyzed. RESULTS: Signal changes of cervical extensor muscles were 51.4% in DHS and 6.3% in the control group, those of interspinous tissue were 85.7% and 18.8%, and those of ALL were 80.0% and 21.9%, respectively, suggesting that the frequency of signal changes of cervical extensor muscles, interspinous tissue and ALL was significantly higher in the DHS group (p < 0.05). The presence of Modic change of acute phase (Modic type I) was also significantly higher in the DHS group than in the control group (p < 0.001). CONCLUSION: MRI findings of DHS within 6 months after the onset presented the characteristic signal changes in cervical extensor muscles, interspinous tissue, ALL and Modic change. Evaluation of MRI signal changes is useful for an objective evaluation of DHS.

Characteristics of sagittal spinopelvic alignment in patients with Parkinson's disease presenting with dropped head syndrome: a case series study.

BACKGROUND: Dropped head syndrome (DHS) is a rare specific abnormal posture known to develop in Parkinson's disease (PD). This case series study aimed to characterize DHS by analyzing the characteristics of sagittal spinopelvic alignment in patients with PD/DHS. METHODS: The study included eight patients with PD/DHS (men = 3, women = 5; mean age, 68.1 ± 6.4 years). Sagittal spinopelvic alignment was evaluated using 10 parameters on whole-spine lateral radiographs. RESULTS: The time from the onset of PD to that of DHS varied among the patients from 0 to 15.3 years. In three patients, DHS appeared before the diagnosis of PD. The severity of motor symptoms at DHS onset varied from modified Hoehn and Yahr stage 1 to 4 among the patients. Although the spinopelvic parameters differed among PD/DHS individuals, all patients exhibited cervical kyphosis (cervical lordosis < 0˚). In patients with a larger T1 slope and greater thoracic kyphosis, anterocollis tended to be more severe. According to the assessment of the sagittal vertical axis (SVA), half of the patients showed a positive SVA (SVA ≥ 0 mm), whereas the other half showed a negative SVA (SVA < 0 mm). CONCLUSION: DHS appeared regardless of the duration or severity of PD. Although all patients with PD/DHS exhibited cervical kyphosis, the C7 plumb line was shifted anteriorly in half of the patients and posteriorly in the other half.

Dropped head syndrome: a treatment strategy and surgical intervention.

PURPOSE: The pathology of dropped head syndrome (DHS) is diverse, and reports of surgery for DHS are scarce. We aimed to describe surgery for DHS and to investigate the surgical outcomes thereof. METHODS: We enrolled 40 consecutive patients (six males and 34 females; average age at surgery, 72.0 years) with DHS who underwent correction surgeries at a single institute. Short fusion (SF), with the extent of fixation mainly at the cervical region, was performed for 27 patients; long fusion (LF), involving the cervical and thoracic spine, for 13. Clinical and radiological outcomes were investigated, and factors analyzed using the Japanese Orthopedic Association Cervical Myelopathy Evaluation Questionnaire (JOACMEQ). RESULTS: All patients were able to gaze horizontally at the follow-up. Instances of five transient C5 palsy results, and five distal junctional kyphosis results were found, but no revisions were reported due to recurrence. Patients whose T1 slope-20° was smaller than the C2-7 angle postoperatively exhibited better clinical outcomes in the three domains of the JOACMEQ, regardless of the extent of fixation. CONCLUSION: For cases where the T1 slope is relatively small, and approximately 10° of cervical lordosis is predicted to be obtained postoperatively, SF is appropriate. Alternatively, for cases with higher T1 slope, obtaining a cervical lordosis over 20° has a risk of postoperative complications. For such cases, it is an option to perform an LF involving the cervical and thoracic spine.

Conservative treatment for dropped head syndrome.

PURPOSE: Previous reports on the outcome of conservative treatment for dropped head syndrome (DHS) are scarce. The purpose of this study was to elucidate the efficacy of conservative treatment for DHS and to identify possible predictive factors relating to the outcome. METHODS: Among 76 DHS patients, conservative treatment (2-3 months collar application, active neck range of motion exercise, and occasional prescription of analgesics) succeeded in 17 patients (22.4%, group S, 4 male, 13 female, mean age 75.9 years). The treatment failed in the remaining 59 patients (group F). Clinical and radiological parameters were compared between the groups. Radiological findings of group S were compared between before treatment and at follow-up. RESULTS: Duration of disease was 6.6 ± 9.3 months in group S and 20.0 ± 27.6 months in group F. C2-7 angle (degree), the incidence of anterior slippage of the vertebra (%), reducibility (%), and upper thoracic kyphosis angle (degree) in group S/F were - 19.2 ± 17.5/- 34.6 ± 26.6, 23.5/62.7, 100/52, and 6.7 ± 8.6/17.9 ± 13.7, respectively. C2-7 angles were - 19.2 ± 17.5 degrees at pre-treatment and 10.2 ± 20.7 degrees at follow-up. These differences were statistically significant. CONCLUSIONS: The present study indicated that conservative treatment was successful in 22% of DHS patients, with improvement in their cervical kyphotic alignment. Shorter duration of disease, relatively smaller cervical kyphosis without anterior slippage of the vertebra, reducibility, and abundant compensation at the upper thoracic region were good indications for the success of conservative treatment.

A novel diagnostic examination for dropped head syndrome (DHS) (Prone position cervical extension test; DHS test).

BACKGROUND: Dropped head syndrome (DHS) is followed by severe cervical extension muscle weakness that results in chin-on chest deformity. However, maintaining a neutral cervical position can be temporarily possible, and the diagnosis of DHS might sometimes be difficult. The purpose of the present study is to examine a novel clinical test (DHS test) as the diagnostic utility for objective evaluation that focuses on cervical extension condition in the prone position. METHODS: One hundred subjects were diagnosed with isolated neck extensor myopathy (INEM)-DHS at our hospital (17 men and 83 women, mean age 75.0 ± 8.5 years), and 62 subjects were enrolled as age-matched controls. The DHS test consisted of three examinations; the first was "Ceiling gazing test" in standing position, the second was horizontal gazing in "Sphinx prone position test", and the third was horizontal gazing in "Hands and knees prone position test". We investigated the sensitivity and specificity of the DHS test for DHS. RESULTS: The patients showing positive in the INEM-DHS group were 63/100 in Ceiling gaze test, 73/100 in the Sphinx prone position test, and 91/100 in the Hands and knees prone position test. In the control group, 0/62 patients presented positive in the Ceiling gaze test, 4/62 in the Sphinx prone position test, and 0/62 in the Hands and knees prone position test. Sensitivity and specificity of the DHS test were 63.0%/100%, 73.0%/93.5%, and 91.0%/100% in the Ceiling gaze test, Sphinx position prone position test, and Hands and knees prone position test, respectively. CONCLUSION: The prone position cervical extension test (DHS test) would be useful as a novel objective diagnostic tool for INEM-DHS.

Severe cervical kyphosis in a young adult with fixed dropped head syndrome, dysphagia, and myelopathy: A case report.

BACKGROUND: Several reports exist on syndromic cervical kyphosis in the elderly, including dropped head syndrome, degenerative spondylosis, and neurological diseases; however, it is rarely reported in young patients especially with complications. CASE PRESENTATION: We describe a case of a 25-year-old man who presented severe cervical kyphosis with dropped head syndrome, horizontal-gaze disorder, dysphagia, and myelopathy. The etiology of this cervical kyphosis was suspected to be as a result of a combination of an underlying developmental disorder and habitual, long-term cervical flexion postures while engaging in smartphone games. Combined anterior and posterior surgeries resulted in good outcomes and improved the patient's quality of life remarkably. CONCLUSION: Cervical kyphosis awareness in young patients is crucial. Moreover, combined anterior and posterior approach provides secure, good results, and with less sequelae.

Association between the Phase Angle and the Severity of Horizontal Gaze Disorder in Patients with Idiopathic Dropped Head Syndrome: A Cross-Sectional Study.

Background and Objectives: The phase angle, calculated by bioelectrical impedance analysis, can help elucidate the pathology of patients with idiopathic dropped head syndrome (IDHS) and explain the motor dysfunction associated with the horizontal gaze disorder. The aim of this study was to clarify the characteristics of phase angle in IDHS patients and the relationship between the phase angle and the severity of horizontal gaze disorder. Materials and Methods: This cross-sectional study included 43 female patients with IDHS and 69 healthy female volunteers. A multi-frequency segmental body composition analyzer was used to calculate body composition parameters, including whole-body and lower extremity phase angles. Propensity score (PS) matching analysis was performed to compare the body composition parameters between the IDHS and healthy groups. Variables that determine the PS were identified by correlation analysis, using the whole-body phase angle as the dependent variable. In addition, correlation analysis was performed between the severity of horizontal gaze disorder as assessed by McGregor's slope (McGS), phase angle, and other body composition parameters. Results: Unadjusted group comparisons showed no significant difference in whole-body and lower extremity phase angles between the IDHS and healthy groups. PS matching created a total of 38 matched pairs for age, height, and fat-free mass index. Although the comparison between groups of matched samples showed no significant difference in the whole-body phase angle, the lower extremity phase angle in the IDHS group was significantly lower than that in the healthy group (p = 0.033). Correlation analysis showed significant negative correlations only between McGS and whole-body (r = -0.31, p = 0.043) and lower extremity phase angle (r = -0.39, p = 0.009) in the IDHS group. Conclusions: Abnormal body composition of the lower extremities were observed in IDHS patients. Furthermore, it was suggested that horizontal gaze disorder in IDHS patients is associated with whole-body and lower extremity phase angles.

Dropped head in systemic sclerosis: a case based review.

Dropped head syndrome is a rare disease entity characterized by severe weakness of the cervical para-spinal muscles, resulting in a chin-on-chest deformity. Systemic sclerosis is one of the causes of dropped head syndrome, but its characteristics and prognosis remain unclear due to the extreme rarity of this condition. We present a case of dropped head which occurred in systemic sclerosis. He presented with severe dropped head and relatively mild weakness of the proximal limb muscles. Serum level of creatine kinase was elevated, myopathic change was observed in electromyography, and gadolinium enhancement was found in magnetic resonance imaging of his posterior neck muscles. Anti-topoisomerase I antibody was positive, while other autoantibodies such as anti-PM/Scl and anti-Ku antibodies were negative. Since his dropped head acutely progressed, high dose of glucocorticoid therapy was initiated, which successfully improved dropped head, serum level of creatine kinase, and gadolinium enhancement in magnetic resonance imaging. Our present case and literature review suggest that dropped head occurring in systemic sclerosis can be treatable with immunosuppressive therapy. It is important to recognize this rare but treatable involvement of systemic sclerosis because early diagnosis and treatment initiation are crucial to prevent the irreversible organ damage and the significant decrease of daily activities.

Dropped head syndrome in a patient with Parkinson's disease and inflammatory myopathy, treated with sternocleidomastoid release and circumferential cervical fusion.

BACKGROUND: Dropped head syndrome (DHS) is a recently recognised cause of cervical spinal deformity and disability. The combination of Parkinson's disease (PD) and inflammatory myopathy in the genesis of DHS has not been previously reported. Furthermore, the optimal surgical treatment of progressive DHS remains undefined. CASE DESCRIPTION: We report the case of a 64-year-old patient with severe DHS and coronal plane deformity secondary to underlying PD, precipitated by a focal paraspinal myositis, successfully corrected using asymmetric sternocleidomastoid (SCM) release and circumferential cervical fusion. The nuances of decision-making in this challenging patient population are highlighted, including the benefits of intraoperative traction, anterior column reconstruction and bicortical screw fixation. Postoperatively, significant reductions in pain and disability were achieved, along with restoration of cervical lordosis (CL), C2-7 sagittal vertical axis (CSVA) and chin-brow vertical angle (CBVA). CONCLUSIONS: Circumferential cervical fusion with concomitant SCM release is a useful option in the treatment of recalcitrant DHS with biplanar deformity, addressing the unique biomechanical and endocrinological challenges posed by patients with underlying PD.

Association between the Horizontal Gaze Ability and Physical Characteristics of Patients with Dropped Head Syndrome.

Background and Objectives: Patients with dropped head syndrome exhibit weakness of the cervical paraspinal muscles. However, the relationship between horizontal gaze disorder and physical function remains unclear. This study aimed to examine and clarify this relationship. Materials and Methods: Ninety-six patients with dropped head syndrome were included. We measured the McGregor's Slope and investigated physical characteristics, including cervical muscle strength, back muscle strength, and walking ability. Factor analysis was used to classify the characteristics of physical function, and a linear multiple regression analysis was used to evaluate independent variables explaining the variance in the McGregor's Slope. The physical functions of DHS patients were classified into three categories by factor analysis: limb and trunk muscle strength, walking ability, and neck muscle strength. Results: The average value of the McGregor's Slope was 22.2 ± 24.0 degrees. As a result of multiple regression analysis, walking speed (ß = -0.46) and apex (ß = -0.30) were extracted as significant factors influencing the McGregor's Slope. Conclusions: Horizontal gaze disorders are not associated with cervical muscle strength but with the walking ability and the alignment type of dropped head syndrome.

The Short and Intensive Rehabilitation (SHAiR) Program Improves Dropped Head Syndrome Caused by Amyotrophic Lateral Sclerosis: A Case Report.

Background and Objectives: Dropped head syndrome (DHS) is a syndrome that presents with correctable cervical kyphotic deformity as a result of weakening cervical paraspinal muscles. DHS with amyotrophic lateral sclerosis (ALS) is a relatively rare condition, and there is no established treatment. This is the first case report describing the improvement of both dropped head (DH) and cervical pain after the short and intensive rehabilitation (SHAiR) program in an ALS patient with DHS. Case Report: After being diagnosed with ALS in June 2020, a 75-year-old man visited our hospital in October 2020 to receive treatment for DHS. At the initial visit, the patient's DH was prominent during standing and walking. The pain intensity of the neck was 9 out of 10 on the numerical rating scale (NRS), which was indicative of severe pain. The patient was hospitalized for 2 weeks and admitted into the SHAiR program. DH began to decrease one week after undergoing the SHAiR program and improved two weeks later. Neck pain decreased from 9 to 6 on the NRS. Results: The SHAiR program is a rehabilitation program aimed at improving DH in patients with idiopathic DHS. The program was designed to improve neck extensor and flexor function and global spinal alignment, and the program may have contributed to the improvement of DH and neck pain. Currently, reports of conservative therapies for this disease are limited to the use of cervical orthosis. Although further research is needed on the safety and indications of treatment, the SHAiR program may be a viable treatment option.

Radiological features of cervical spine in dropped head syndrome: a matched case-control study.

PURPOSE: Dropped head syndrome (DHS) is presumably caused by focal myopathy in the cervical posterior muscles; however, distinguishable radiological features of the cervical spine in DHS remain unidentified. This study investigated the radiological features of the cervical spine in dropped head syndrome. METHODS: The records of DHS patients and age- and sex-matched cervical spondylotic myelopathy (CSM) patients were reviewed. Cervical spinal parameters (C2-7, C2-4, and C5-7 angles) were assessed on lateral cervical spine radiographs. Quantitative radiographic evaluation of cervical spine degeneration was performed using the cervical degenerative index (CDI), which consists of four elements: disk space narrowing (DSN), endplate sclerosis, osteophyte formation, and listhesis. RESULTS: Forty-one DHS patients were included. Statistically significant differences were noted between the upper and lower cervical spine in the sagittal angle parameters on the neutral, flexion, and extension radiographs in DHS group, whereas no significant differences were observed in CSM group. CDI comparison showed significantly higher scores of DSN in C3/4, C4/5, C5/6, and C6/7; sclerosis in C5/6 and C6/7; and osteophyte formation in C4/5, C5/6, and C6/7 in DHS group than in CSM group. Comparison of listhesis scores revealed significant differences in the upper levels of the cervical spine (C2/3, C3/4, and C4/5) between two groups. CONCLUSION: Our results demonstrated that the characteristic radiological features in the cervical spine of DHS include lower-level dominant severe degenerative change and upper-level dominant spondylolisthesis. These findings suggest that degenerative changes in the cervical spine may also play a role in the onset and progression of DHS.

Relationship between cervical and global sagittal balance in patients with dropped head syndrome.

BACKGROUND: DHS is characterized by chin-on-chest deformity and devastatingly impedes activities of daily living in affected individuals. There is a paucity of literature about the pathophysiology of DHS including knowledge about spinal sagittal alignment. We conducted this study to clarify the relationship between cervical sagittal alignment and global sagittal balance in DHS. METHODS: This is a retrospective radiographic study of a case series of DHS. Forty-one patients with diagnosed DHS were enrolled. Measurements were made using lateral standing radiograph. RESULTS: C2-C7 sagittal vertical axis (SVA) was estimated as 52.0 ± 2.4 mm. Among sagittal parameters, C7-S1 SVA positively correlated with C2-C7 angle (C2-C7 A) (r = 0.33). For the correlations between C7 and S1 SVA and C2-C7 A, both logistic and linear regression models were used to determine the threshold for C2-C7 A value responsible for global sagittal balance. C2-C7 A of - 15.0 and 6.0 were predicted by logistic and linear regression models and were considered responsible for the occurrence of global positive imbalance. Therefore, we divided into two groups, namely, cervical kyphosis group (C type) and diffuse kyphosis group (D type) by median value of C2-C7 A. Enlarged thoracic kyphosis and global positive imbalance were observed in D type compared to C type. CONCLUSION: C2-C7 A exhibited correlations with cervical balance and also with global balance. There should be various type of thoraco-lumbar alignment in DHS. These slides can be retrieved under Electronic Supplementary Material.

Impact of Spinopelvic sagittal alignment on the surgical outcomes of dropped head syndrome: a multi-center study.

BACKGROUND: Most of the previous studies about the surgical treatment of dropped head syndrome (DHS) are small case series, and their primary outcome measures were cervical alignment parameters. Therefore, little is known about the associations between pre- and postoperative global sagittal alignment in the whole spine and the clinical outcomes of the surgical treatment of DHS. In this study, we investigated the surgical outcomes of DHS, including correction of cervical and global spinal sagittal alignment. METHODS: This study was a retrospective observational study. Fifteen patients with DHS who had undergone correction surgery were enrolled. Surgical outcomes, including complications and implant failures, were investigated. We assessed cervical alignment parameters as well as spinopelvic global alignment parameters, including pelvic incidence (PI), lumbar lordosis (LL), and C7-sacral sagittal vertical axis (SVA). We examined the changes in these parameters using pre- and posoperative whole spine lateral radiographs. The parameters were compared between the failure and nonfailure groups. RESULTS: Recurrence of sagittal imbalance and horizontal gaze difficulty was observed in 6 cases (40%). In all, 3 cases (20%) exhibited a distal junctional failure and required multiple surgeries with extension of fusion. Of all the radiographic parameters compared between the failure and nonfailure groups, significant differences were only observed in pre and postoperative SVA and PI-LL. CONCLUSIONS: Our results suggest that the global sagittal alignment parameters, including PI-LL and SVA, were different between the patients with failure and non failure, and these parameters might have notable impacts on surgical outcomes. Surgeons should consider PI-LL and SVA while determining the surgical course for patients with DHS.

Dropped Head Syndrome Attenuation by Hybrid Assistive Limb: A Preliminary Study of Three Cases on Cervical Alignment during Walking.

Background and Objectives: Dropped head syndrome (DHS) is characterized by apparent neck extensor muscle weakness and difficulty in extending the neck to raise the head against gravity. DHS affects forward vision and eating behavior, and hence impairs quality of life. However, standardized treatment of DHS has not yet been established. The purpose of this preliminary study is to seek for a possibility of effective non-surgical, conservative treatment for DHS, by applying a robotic treatment. Materials and Methods: A wearable exoskeleton type robot suit hybrid assistive limb (HAL) was applied to three patients with DHS. A course of HAL treatment included 10 sessions of gait training using HAL. One session lasted about an hour. Case 1 completed the course twice, the first time in two weeks (one session per day) and second time in 10 months (one session per month). Case 2 and Case 3 completed the course once in 10 weeks (one session per week) and in 6 months (one session per 2.5 weeks), respectively. Immediate and lasting effects of HAL on the reduction of cervical sagittal vertical alignment (SVA) during gait was evaluated using a motion capture system. Results: Case 1 showed improvement of cervical alignment during gait after the HAL courses of both different frequencies. Case 2 did not show improvement of cervical alignment during gait. Case 3 showed improvement of cervical kyphosis but not of cervical sagittal alignment during gait. Conclusions: The results of the preliminary study suggest that gait training using HAL may be an effective option of conservative treatment for a part of DHS patients. They also suggest that a lack of immediate effects on the cervical alignment and a lack of ability to perform compensatory trunk motion may indicate a non-responding patient. Generalization of the results requires further research with more cases.

Autopsy findings in the early stage of amyotrophic lateral sclerosis with "dropped head" syndrome.

Dropped head syndrome (DHS) has been rarely observed in amyotrophic lateral sclerosis (ALS), and the neuropathological findings of this condition have almost never been described. The identification of transactivation response DNA-binding protein 43 kDa (TDP-43), which binds to RNA/DNA has provided a new method for studying ALS and frontotemporal lobar degeneration (FTLD). Post-mortem examination of an adult sudden death case of a 71-year-old patient who complained of DHS exhibited severe loss of anterior motor neurons in the cervical cord (C4-6). Loss of nerve fibers of the anterior roots was striking compared with posterior roots, together with marked neurogenic atrophy of posterior muscles semispinalis cervicis. Bunina bodies were found in large neurons of Betz giant cells, but not in the motor neurons of spinal cords, or neurons of bulbar regions. Phosphorylated TDP-43 (p-TDP-43)-positive structures were detected in the residual neurons of the cervical, thoracic and lumber cords, hypoglossal nucleus, cerebellar dentate nucleus and parahippocampal cortex, together with ubiquitin-positive inclusions. Phosphorylated Tau positive structures in neuronal cytoplasm were found in the amygdala, entorhinal cortex and parahippocampal cortex, some of which co-expressed p-TDP-43. The medial zone of cervical cords may be the first onset site, and that is the cause of head drop in the early stage of ALS. In spite of detailed examination, the direct cause of sudden death was not verified. This autopsy report revealed the relation of DHS which is a rare clinical manifestation of ALS, and neuropathological findings.

Radiologic features of dropped head syndrome in the overall sagittal alignment of the spine.

PURPOSE: Dropped head syndrome (DHS) is a rare clinical entity which is defined as a chin-on-chest deformity in the standing or sitting position, resulting from sagittal imbalance of the cervical region. The purpose of the present study was to clarify the radiologic features of DHS in the overall sagittal alignment of the spine. We also investigated the changes in sagittal alignment after correction surgery for DHS. METHODS: Twenty DHS patients [1 male and 19 female, with an average age of 78.9 years (range 59-88)] with a main complaint of horizontal gaze disorder were enrolled in this study. Spino-pelvic lateral radiographs in the free-standing clavicle position were taken of all patients. Parameters such as sagittal vertical axis (SVA), C2-7 angle, clivo-axial angle (CAA), C2-7 SVA, T1 slope, thoracic kyphosis (TK), lumbar lordosis (LL), pelvic incidence (PI), sacral slope (SS), and pelvic tilt (PT) were measured, and the radiologic features of DHS in the overall sagittal alignment of the spino-pelvis were investigated. Eight patients underwent correction surgery, and the parameter changes between pre- and post-operative radiographs were also examined. RESULTS: DHS appeared to have two distinct types: SVA+ and SVA-. Seven of 20 cases were SVA+, and 13 were SVA-. The radiologic parameters in which we found statistically significant differences between the groups were: 80.2 ± 68 and -44.5 ± 40 (SVA), 42.1 ± 16.8 and 18.4 ± 11.4 (T1 slope), and 21.1 ± 19.2 and 44.2 ± 19.8 (LL) in SVA+ and SVA-, respectively. After surgical intervention, T1 slope and LL appeared to approach normal in the SVA- group, because compensation at downward spine was no longer necessary. In SVA+ group, although the patients gained horizontal gaze after surgery, abnormality of the sagittal alignment in the whole spine remained, because compensation in the thoracic and lumbar spine was still insufficient. CONCLUSIONS: The present study has indicated that radiologic feature of DHS in the sagittal alignment of the overall spino-pelvis can be categorized into two types: SVA+ and SVA-.

Correction of dropped head deformity through combined anterior and posterior osteotomies to restore horizontal gaze and improve sagittal alignment.

OBJECTIVE: The aim of this study is to present our technique for a large focal correction of a partially flexible dropped head deformity through combined anterior and posterior osteotomies, as well as anterior soft tissue releases. METHODS: One patient with dropped head deformity underwent an anterior and posterior osteotomy with anterior soft tissue release. RESULTS: The patient recovered well, with postoperative radiographs demonstrating significant improvement in coronal and sagittal alignment. His C2-C7 sagittal vertical axis improved from 7.5 cm preoperatively to less than 4 cm postoperatively and his C2-C7 sagittal Cobb improved from 35° of kyphosis to 10° of lordosis. CONCLUSION: In this report, we present our technique for a large focal correction of a partially flexible dropped head deformity through combined anterior and posterior osteotomies and anterior soft tissue releases. These more conservative osteotomies permitted gradual deformity correction and alleviated the need for pedicle subtraction osteotomy. We were able to restore horizontal gaze and improve sagittal malalignment. Although the technique we present here is one of many possible options for managing the deformity, we believe this combined approach is safe and effective and well tolerated by patients.

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

UNLABELLED: Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a congenital myopathy pattern with myofibrillar disorganization. We report on clinical and instrumental features in three patients affected with a congenital myopathy characterized by prevalent neck weakness starting at different ages and mild myopathy, in whom we performed diagnosis of SEPN-RM. The patients presented myopathic signs since their first years of life, but the disease remained unrecognized because of a relatively benign myopathic course. In two cases, myopathic features were stable after 2 years of follow-up, but respiratory involvement worsened. The muscle MRI and muscle biopsy showed a typical pattern of SEPN-RM. Molecular diagnosis revealed two novel homozygous mutations in SEPN1, c.1176delA and c.726_727InsTCC. CONCLUSION: This report underlines the clinical diagnostic clues of early neck and axial weakness to suspect a SEPN-RM and the usefulness of muscle MRI in conjunction with clinical features to achieve the diagnosis. Our data confirm the slow progression of respiratory involvement in spite of the relatively stable course of myopathy. We report two previously undescribed mutations in SEPN1. WHAT IS KNOWN: • Mutations in SEPN1 cause myopathy characterized by early-onset axial and neck weakness spinal rigidity and respiratory failure. • SEPN-related myopathies have been initially associated with four distinct histopathological entities that however appear more mixed in recently described cases. What is New: • SEPN-related myopathies can remain unrecognized because of the normal early motor development and relatively benign myopathic course of the disease. • Our study adds two novel homozygous mutations to the number of reported pathogenic SEPN1 variants.