Determinants and functional impacts of diaphragmatic involvement in patients with inclusion body myositis.

BACKGROUND: We evaluated the functional consequences of diaphragm involvement in patients with inclusion body myositis (IBM). METHODS: Ultrasound diaphragm thickening fraction (TFdi), lung function and dyspnea levels were compared between IBM patients and matched controls. Patients with IBM were grouped into "low" and "high" diaphragm activity based on TFdi values (with cutoff value being the lowest observed TFdi in the control group), and clinical characteristics were compared between groups. RESULTS: 20 IBM patients were included. TFdi was significantly lower in patients and correlated with time since symptom onset (rho = 0.74, P < .001). Patients had significantly lower forced vital capacity and higher dyspnea scores than controls. IBM patients with "low" diaphragm activity (n = 9) had lower 6-min walking distance, higher resting and exertional dyspnea and a larger positional decrease in vital capacity (all P ≤ .03) than patients with 'high' activity. Timed Up and Go time and St. George's Respiratory Questionnaire were not different between groups. CONCLUSIONS: Diaphragm involvement in IBM is related to disease duration and has detrimental effects on lung function, dyspnea and exercise capacity. Further studies are required to investigate its potential as a therapeutic target.

A 63-Year-Old Man Presents With Slowly Progressive Dyspnea on Exertion and Lower Extremity Muscle Weakness.

CASE PRESENTATION: A 63-year-old man was referred for slowly progressive dyspnea on exertion that had developed over 7 years. Dyspnea was initially only present during high-intensity physical activity, but was now present while walking rapidly on a flat surface. Symptoms were accentuated while supine and when bending forward. He reported respiratory difficulties when submerged in water and a recent onset of slight symmetric lower limb weakness that was only apparent during strenuous physical activity. He also had OSA, which was adequately controlled with continuous positive airway pressure therapy. Neurologic and rheumatologic histories were otherwise unremarkable. He denied any impact accidents or trauma to the cervical spine and prior neck or thoracic surgeries.

Diffuse age-related lumbar mri changes confound diagnosis of single (L5) root lesions.

INTRODUCTION: L5 radiculopathy has characteristic clinical and electrodiagnostic features including: radicular pain; weakness or denervation of hip abductors, ankle dorsiflexors, and inverters; and pre-ganglionic dorsal foot sensory loss. It is unknown how often patients with this distinctive clinical-electrodiagnostic presentation have isolated L5-root compression on neuroimaging or more widespread, possibly age-related, lumbar neuroforaminal or spinal stenosis. METHODS: A study-blinded neuroradiologist quantitated lumbosacral neuroforaminal, lateral recess, and spinal stenosis in 26 consecutive patients with unilateral, clinically and EMG-ascertained L5 monoradiculopathy, and quantitated a global neuroforaminal and spinal stenosis score (SSS). RESULTS: Only 9 patients (35%) had isolated L5-root compression, 14 (54%) had multi-root compression, and 3 (12%) had normal neuroimaging. Increasing age correlated with SSS, and the 9 patients with isolated L5-root compression were significantly younger than patients with multi-root involvement. CONCLUSIONS: This study underscores the role of clinical and electrodiagnostic data when interpreting lumbosacral neuroimaging, particularly in older patients.

Sensory neuropathies, from symptoms to treatment.

PURPOSE OF REVIEW: The present review focuses on recent developments in diagnosis and treatment of sensory neuropathies. It does not seek to establish a comprehensive classification of sensory neuropathies, nor treatment guidelines per se. RECENT FINDINGS: Diagnostic criteria and guidelines have been developed for distal symmetric polyneuropathies, small fiber sensory neuropathies and sensory neuronopathies. Novel diagnostic tools such as skin biopsies now allow diagnosis of small fiber sensory neuropathies. Genetic testing has defined new subtypes of mitochondrial neuropathies and inherited neuropathies with sensory involvement. Intravenous immunoglobulin and tumor necrosis factor-alpha inhibitors show promise for some dysimmune sensory neuropathies or neuronopathies. Additional options for management of neuropathic pain are emerging. SUMMARY: Diagnostic methods for both acquired and hereditary sensory neuropathies have progressed in recent years, leading to earlier and more specific diagnoses and a better understanding of disease mechanisms. Much progress remains to be made regarding symptomatic and disease-modifying therapy for a range of sensory neuropathies, including those due to diabetes, HIV infection and from dysimmune or hereditary causes.

Prolonged remission of a demyelinating neuropathy in a patient with lymphoma and Sjögren's syndrome after Rituximab therapy.

Chronic acquired demyelinating polyneuropathies may be refractory to conventional therapy including corticosteroids, plasma exchange, and intravenous immunoglobulin (Ig) or require long-term immunotherapy to maintain remission. Use of alternative approaches such as Rituximab, an anti-CD20 antibody, in the treatment of demyelinating polyneuropathy, unrelated to IgM gammopathy and myelin-associated glycoprotein antibodies, has been the subject of only a few case reports. We report the case of a 79-year-old woman with a distal acquired demyelinating polyneuropathy in the context of Sjögren's syndrome, IgG paraproteinemia, and occult lymphoma who has had an excellent and durable response to Rituximab therapy.

Unsatisfactory outcomes in myasthenia gravis: influence by care providers.

Myasthenia gravis (MG) can be difficult to treat despite an available therapeutic armamentarium. Our aim was to analyze the factors leading to unsatisfactory outcome (UO). To this end we used the Myasthenia Gravis Foundation of America classification system. Forty one patients with autoimmune MG were followed prospectively from January 2003 to December 2007. Outcomes were assessed throughout follow-up and at a final visit. 'Unchanged', 'worse', 'exacerbation' and 'died of MG' post-intervention status were considered UOs. During follow-up, UO rates reached 54% and were related to undertreatment (41%), poor treatment compliance (23%), infections (23%), and adverse drug effects (13%). The UO rate at final study assessment was 20%. UO during follow-up was significantly (P = 0.004) predictive of UOs at final assessment. When care was provided by neuromuscular (NM) specialists, patients had significantly better follow-up scores (P = 0.01). At final assessment UO rates were 7% and significantly better in patients treated by NM specialists, compared to other physicians where UO rates reached 27%. UO was a frequent finding occurring in more than half our patients during follow-up. Nearly two-thirds of the UOs could have been prevented by appropriate therapeutic adjustments and improved compliance. The differential UO rates at follow-up, their dependency on the degree to which the management was specialized and their correlation with final outcomes suggest that specialized MG care improves outcomes.

Is the bedside timed vibration test reliable?

The timed vibration test (TVT) is an easy-to-perform bedside sensory test; however, its reliability is not well established at sites commonly used for clinical testing. We evaluated intra- and interrater reliability of the TVT in a healthy control cohort of 25 adult volunteers and assessed the influence of neurologic training on TVT. Intrarater [intraclass correlation coefficient (ICC) range 0.79-0.92] and interrater (ICC range 0.0.82-0.95) reliability of TVT was high at different sites, which suggests that TVT is a reliable bedside examination when performed using a standardized protocol.

Pitfalls of diagnostic criteria for small fiber neuropathy.

This Practice Point commentary discusses a retrospective study conducted by Devigili et al. that sought to establish gold standard diagnostic criteria for small fiber neuropathy (SFN). The chosen gold standard for SFN requires abnormalities on two out of three tests (clinical findings, skin biopsy [epidermal nerve fiber density] and quantitative sensory testing), with nerve conduction studies being normal. A total of 150 patients with sensory symptoms met study inclusion criteria, and 67 were determined to have SFN on the basis of the gold standard criteria. Epidermal nerve fiber density was the single most useful test for SFN with a diagnostic efficiency of 88.4%. This commentary argues in favor of a hierarchical system of levels of diagnostic certainty for SFN, depending on the number and type of abnormal diagnostic tests, in contrast to the dichotomous approach used by Devigili et al. We further highlight methodological limitations of the present study, such as the confounding of diagnostic-efficiency estimates for individual SFN tests through incorporation bias.

Aggressive behavior and posterior cerebral artery stroke.

OBJECTIVE: To describe the mechanisms leading to aggressive behavior among patients with acute posterior cerebral artery stroke. DESIGN, SETTING, AND PATIENTS: We prospectively included all of the patients with posterior cerebral artery stroke and aggressive behavior admitted to our department from January 1, 2003, to December 31, 2004. Patients with history of stroke, cognitive impairment, or prior history of psychiatric disease were excluded. RESULTS: Aggressive behavior was found in 3 patients (7.3%) among 41 patients with posterior cerebral artery stroke. One patient had right occipitotemporal and ventrolateral thalamic stroke. The second patient had left occipitotemporal and lateral thalamic stroke. The third patient had right isolated occipital stroke. In addition to a contralateral homonymous hemianopsia, the patients, who were physically and emotionally balanced before the stroke, suddenly manifested an acute, unusual, aggressive behavior. The patients became agitated and aggressive when they were stimulated by the environment, and they responded to solicitation by their relatives or medical personnel by shouting obscenities and hitting and biting others. In all of the 3 cases, temporary physical restraint was required and neuroleptics were administered. This unusual behavioral pattern resolved within 2 weeks after stroke. CONCLUSIONS: Aggressive behavior is a rare presentation of acute posterior cerebral artery stroke, which may be difficult to diagnose in patients presenting with hemianopsia as the only concomitant neurological sign. The postulated mechanisms include dysfunction of the limbic or serotoninergic system.