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Contains fulltext : 52439.pdf (Publisher’s version ) (Closed access) Neuralgic amyotrophy is a distinct clinical syndrome with acute severe pain and patchy paresis in the shoulder and arm region. The clinical phenotype was recently found to be more comprehensive and the long-term prognosis less optimistic than usually assumed for many patients. The disorder can be idiopathic or hereditary in an autosomal dominant fashion, with only few phenotypical variations between the two. This article provides a practical overview of current knowledge on the clinical presentation, diagnosis, pathogenesis and the treatment of pain and complications.

Contains fulltext : 51585.pdf (Publisher’s version ) (Closed access) Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations. The patient achieved independent sitting at age 2, but lost head balance at age 7; he was never able to stand unsupported. Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal polyneuropathy. Investigation of the primary molecular defect in congenital muscular dystrophy patients is important for genetic counseling, because the clinical features of the various forms overlap, and because significant laminin alpha2 chain reduction may occur in patients with primary defects in other genes.

Contains fulltext : 153140.PDF (Publisher’s version ) (Open Access) OBJECTIVE: Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary care setting. METHODS: In a prospective cohort study during the year 2012 we registered all new cases of neck, shoulder or arm complaints from two large primary care centers serving a population of 14,118. Prior to study, general practitioners received a short training on how to diagnose classic neuralgic amyotrophy. Neuralgic amyotrophy was defined according to published criteria irrespective of family history. Only patients with a classic phenotype were counted as definite cases. After inclusion, patients with suspected neuralgic amyotrophy who had not yet seen a neurologist were offered neurologic evaluation for diagnostic confirmation. RESULTS: Of the 492 patients identified with new onset neck, shoulder or arm complaints, 34 were suspected of having neuralgic amyotrophy. After neurologic evaluation the diagnosis was confirmed in 14 patients. This amounts to a one-year incidence rate for classic neuralgic amyotrophy of 1 per 1000. CONCLUSIONS: Our findings suggest that neuralgic amyotrophy is 30-50 times more common than previously thought. Unawareness of the disorder and its clinical presentation seems the most likely explanation for this difference. An incidence rate of 1 per 1000 and the long-term sequelae many patients suffer warrant more vigilance in diagnosing the disorder, to pave the way for timely treatment and prevent complications.

This article will deal with the electrodiagnostic assessment of the various neuromuscular disorders. For clarity, they will broadly be divided in three major groups: neurogenic disorders affecting anterior horn cells, ganglia, roots, plexuses, or nerves; myopathies; and neuromuscular junction disorders. The mainstay of the diagnostic tools used relies on electroneurography (nerve conduction studies) and electromyography (needle EMG) techniques, commonly referred to as EMG. A short introduction to nerve conduction studies is given in the second section. For an in-depth discussion of the various needle EMG techniques, the authors refer the reader to the other articles in this section. Keywords: neurogenic disorders; myopathies; neuromuscular junction disorders; electroneurography; electromyography

Contains fulltext : 48154.pdf (Publisher’s version ) (Closed access) The sural/radial nerve amplitude ratio (SRAR) has been proposed as a sensitive indicator of early-stage axonal polyneuropathy. However, previous studies did not take into account the effect of sex differences or different calculating methods. To obtain reference values and information on the variability of the SRAR in daily practice, we measured amplitudes of sural and superficial radial sensory nerve action potentials in 106 healthy adults, correlated them with epidemiological variables, and calculated the SRAR in several ways. Our results show that the SRAR is a robust measure, independent of age, weight, sex, or method of calculation. The use of bilateral measurements is recommended. The cut-off value (5th percentile) of 0.2 in these healthy subjects is much lower than found previously, especially compared to defining cut-off values by comparing patients with matched controls. Further study is needed to establish the clinical value of this SRAR in the early detection of axonal polyneuropathies.

Contains fulltext : 59252.pdf (Publisher’s version ) (Closed access) BACKGROUND: In autosomal dominant cerebellar ataxias (ADCAs), it is unclear whether the associated peripheral nerve involvement is always a typical length-dependent axonopathy rather than primary neuronopathy due to neuronal degeneration in the spinal anterior horns and/or dorsal root ganglia. OBJECTIVE: To study the nature and extent of peripheral nerve involvement in patients with ADCA. PATIENTS AND METHODS: Standardized clinical and electrophysiologic studies of 27 genotyped patients with ADCA were conducted prospectively, with special emphasis on the distinction between primary neuronopathy and dying-back axonopathy. RESULTS: Electrophysiologic evidence of involvement of the peripheral nervous system was present in 70% of patients. Findings were compatible with dying-back axonopathy in 30%, while in 40% of patients, neuronopathy was diagnosed. Patients with spinocerebellar ataxia (SCA) 1 and SCA2 mostly displayed features of neuronopathy, while patients with SCA3 and SCA7 displayed both neuronopathy and axonopathy. In SCA6, no significant peripheral nerve involvement was demonstrated. We did not observe an influence of age, disease duration, or ataxia severity on the presence or type of peripheral nerve involvement. CONCLUSIONS: Peripheral nerve involvement in ADCA manifests not only as distal axonal neuropathy, but also as primary neuronopathy. Electrodiagnostic studies in this group of patients should be conducted in such a way that primary neuronopathy is detected.

We report three patients with a brachial plexus neuropathy diagnosed as neuralgic amyotrophy (NA) preceded by a proven Bartonella henselae infection. Neuralgic amyotrophy is a disabling disease involving the brachial plexus, with attacks of severe shoulder and arm pain followed by weakness and sensory involvement.1 Several observations support the hypothesis of an immune-mediated genesis. First, brachial plexus biopsies of NA patients in the (sub)acute stage show inflammatory changes.2 3 Second, antiganglioside antibodies are reported to be associated with NA.1 4 Third, several immune-triggering events, most frequently infections (50%), are known to precede NA.1–4 Various micro-organisms preceding NA have been reported (see table 1) but not yet B henselae . View this table: Table 1 Results of literature search for micro-organisms associated with neuralgic amyotrophy B henselae is a Gram-negative, intracellular bacterium causing cat-scratch disease (CSD), which usually presents with fever, malaise and regional lymphadenopathy. Occasionally, neurological complications occur, most frequently neuroretinitis and encephalopathy, but also peripheral nervous system disorders.5 These complications occur 1–3 weeks from the onset of lymphadenopathy, without any signs of direct infection of the nervous system, suggesting an immune-mediated genesis. Infections can induce auto-immune reactions by several mechanisms. Molecular mimicry could be the underlying pathophysiological mechanism in NA, comparable with Guillain–Barre syndrome, for example. Alternatively, NA may …

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In this case study a 9-year old ambulatory symptomatic girl with Duchenne muscular dystrophy participated in a dynamic training. Since the role of exercise is far from clear in both boys and girls with DMD, a recently developed assisted bicycle training was evaluated for its feasibility and effectiveness in this girl. The girl trained at home, 15 min with her arms followed by her legs, 5 times a week, for 24 weeks. The primary outcomes were the Motor Function Measure, and the Assisted Six-Minute Cycling Test. Secondary outcomes were the Vignos and Brooke scale for lower and upper extremity functioning, timed tests (time to rise from a floor, to rise from a chair, to climb 3 stairs and to walk 10 m), the Medical Research Scale scale for muscle strength, and quantitative muscle ultrasound to determine the echo intensity of the biceps brachii muscle, the forearm flexors, the rectus femoris muscle and the tibialis anterior muscle. This case study showed that the assisted bicycle training was feasible and safe. Additionally, we found that no physical deterioration occurred during the training period: she remained stable on the Motor Function Measure and the Assisted Six-Minute Cycling Test. Slight improvements in quantitative muscle ultrasound intensity were found, indicating less fatty infiltration in the muscles. Since there are several indications from this case study that physical training could be beneficial in this population, we recommend further research on the effects of dynamic training in girls with DMD and its relation to the level of dystrophin.

Contains fulltext : 88680.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Effects of systemic inflammation on cerebral function are not clear, as both inflammation-induced encephalopathy as well as stress-hormone mediated alertness have been described. METHODS: Experimental endotoxemia (2 ng/kg Escherichia coli lipopolysaccharide [LPS]) was induced in 15 subjects, whereas 10 served as controls. Cytokines (TNF-alpha, IL-6, IL1-RA and IL-10), cortisol, brain specific proteins (BSP), electroencephalography (EEG) and cognitive function tests (CFTs) were determined. RESULTS: Following LPS infusion, circulating pro- and anti-inflammatory cytokines, and cortisol increased (P < 0.0001). BSP changes stayed within the normal range, in which neuron specific enolase (NSE) and S100-beta changed significantly. Except in one subject with a mild encephalopathic episode, without cognitive dysfunction, endotoxemia induced no clinically relevant EEG changes. Quantitative EEG analysis showed a higher state of alertness detected by changes in the central region, and peak frequency in the occipital region. Improved CFTs during endotoxemia was found to be due to a practice effect as CFTs improved to the same extent in the reference group. Cortisol significantly correlated with a higher state of alertness detected on the EEG. Increased IL-10 and the decreased NSE both correlated with improvement of working memory and with psychomotor speed capacity. No other significant correlations between cytokines, cortisol, EEG, CFT and BSP were found. CONCLUSIONS: Short-term systemic inflammation does not provoke or explain the occurrence of septic encephalopathy, but primarily results in an inflammation-mediated increase in cortisol and alertness. TRIAL REGISTRATION: NCT00513110.

Additional file 1: Figure E1. Muscle measurements predefined measurement sites. Table E1. Muscle measurements predefined measurement sites. Figure E2. Ultrasound image of the rectus femoris. Table E2. Regression model formulas for normal values of muscle thickness and muscle echo intensity. Table E3. Characteristics of new healthy control cohort. Figure E3. Muscle thickness and echo intensity.