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Incidence of neuralgic amyotrophy (Parsonage Turner syndrome) in a primary care setting--a prospective cohort study.

ABSTRACT: 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.

SUBMITTER: van Alfen N

PROVIDER: S-EPMC4445915 | biostudies-literature |

REPOSITORIES: biostudies-literature

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The neuralgic amyotrophy consultation.

Project description: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.

| S-EPMC2780663 | biostudies-literature

Histology of hereditary neuralgic amyotrophy.

Project description:We report the findings in five muscle and three sural nerve biopsies, and in one postmortem plexus specimen, from six patients with hereditary neuralgic amyotrophy (HNA). We found that the sensory nerves are definitely involved in HNA despite the mainly motor symptoms, and that lesions in nerves and muscles are more widespread throughout the peripheral nervous system than clinically presumed, but, simultaneously, very focally affect isolated fascicles within individual nerves.

| S-EPMC1739556 | biostudies-other

Neuralgic amyotrophy and hepatitis E virus infection.

Project description:ObjectiveTo determine whether there is an association between an acute preceding hepatitis E virus (HEV) infection and neuralgic amyotrophy (NA), and if so, whether patients with HEV-related NA differ from patients without an associated HEV infection.MethodsHEV testing was conducted in a retrospective cohort of 28 Cornish patients with NA (2011-2013) and a prospective cohort of 38 consecutive Dutch patients with NA (2004-2007). Acute-phase serum samples were analyzed for the presence of anti-HEV immunoglobulin (Ig) M and IgG and HEV RNA (quantitative real-time PCR).ResultsFive cases (10.6%) of acute hepatitis E infection were identified in a total group of 47 patients with NA of whom serum samples were available. In 4 patients, HEV RNA was detected in serum samples taken at presentation. All patients with HEV-associated NA had clinical and electrophysiologic evidence of bilateral brachial plexus involvement. Anti-HEV IgM positivity was not related to age, sex, disease severity, disease course, or outcome.ConclusionsAcute hepatitis E is found in 10% of patients with NA from the United Kingdom and the Netherlands. Further research is required to investigate the role of HEV in NA in other geographical locations and to determine pathophysiologic mechanisms.

| S-EPMC3937863 | biostudies-literature

Painless idiopathic neuralgic amyotrophy after COVID-19 vaccination: A case report.

Project description: Not available

| S-EPMC8250535 | biostudies-literature

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Project description:BackgroundHereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified.ObjectiveTo determine the frequency and type of mutations in the SEPT9 gene in a new cohort of 42 unrelated HNA pedigrees.MethodsDNA sequencing of all exons and intron-exon boundaries for SEPT9 was carried out in an affected individual in each pedigree from our HNA cohort. Genotyping using microsatellite markers spanning the SEPT9 gene was also used to identify pedigrees with a previously reported founder haplotype.ResultsTwo missense mutations were found: c.262C>T (p.Arg88Trp) in seven HNA pedigrees and c.278C>T (p.Ser93Phe) in one HNA pedigree. Sequencing of other known exons in SEPT9 detected no additional disease-associated mutations. A founder haplotype, without defined mutations in SEPT9, was present in seven pedigrees.ConclusionsWe provide further evidence that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA). DNA sequencing of SEPT9 demonstrates a restricted set of mutations in this cohort of HNA pedigrees. Nonetheless, sequence analysis will have an important role in mutation detection in HNA. Additional techniques will be required to find SEPT9 mutations in an HNA founder haplotype and other pedigrees.

| S-EPMC2683739 | biostudies-literature

Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules.

Project description:Septin 9 (SEPT9) interacts with microtubules (MTs) and is mutated in hereditary neuralgic amyotrophy (HNA), an autosomal-dominant neuropathy. The mechanism of SEPT9 interaction with MTs and the molecular basis of HNA are unknown. Here, we show that the N-terminal domain of SEPT9 contains the novel repeat motifs K/R-x-x-E/D and R/K-R-x-E, which bind and bundle MTs by interacting with the acidic C-terminal tails of β-tubulin. Alanine scanning mutagenesis revealed that the K/R-R/x-x-E/D motifs pair electrostatically with one another and the tails of β-tubulin, enabling septin–septin interactions that link MTs together. SEPT9 isoforms lacking repeat motifs or containing the HNA-linked mutation R88W, which maps to the R/K-R-x-E motif, diminished intracellular MT bundling and impaired asymmetric neurite growth in PC-12 cells. Thus, the SEPT9 repeat motifs bind and bundle MTs, and thereby promote asymmetric neurite growth. These results provide the first insight into the mechanism of septin interaction with MTs and the molecular and cellular basis of HNA.

| S-EPMC3871440 | biostudies-literature

Cerebral Adaptation Associated with Peripheral Nerve Recovery in Neuralgic Amyotrophy: A Randomized Controlled Trial.

Project description:BackgroundNeuralgic amyotrophy (NA) is a common peripheral nerve disorder caused by auto-immune inflammation of nerves in the brachial plexus territory, characterized by acute pain and weakness of the shoulder muscles, followed by motor impairment. Recent work has confirmed that NA patients with residual motor dysfunction have abnormal cerebral sensorimotor representations of their affected upper extremity.ObjectiveTo determine whether abnormal cerebral sensorimotor representations associated with NA can be altered by specialized, multidisciplinary outpatient rehabilitation focused on relearning motor control.Methods27 NA patients with residual lateralized symptoms in the right upper extremity participated in a randomized controlled trial, comparing 17 weeks of multidisciplinary rehabilitation (n = 16) to usual care (n = 11). We used task-based functional MRI and a hand laterality judgment task, which involves motor imagery and is sensitive to altered cerebral sensorimotor representations of the upper extremity.ResultsChange in task performance and related brain activity did not differ significantly between the multidisciplinary rehabilitation and usual care groups, whereas the multidisciplinary rehabilitation group showed significantly greater clinical improvement on the Shoulder Rating Questionnaire. Both groups, however, showed a significant improvement in task performance from baseline to follow-up, and significantly increased activity in visuomotor occipito-parietal brain areas, both specific to their affected upper extremity.ConclusionsAbnormal cerebral sensorimotor representations of the upper extremity after peripheral nerve damage in NA can recover toward normality. As adaptations occurred in visuomotor brain areas, multidisciplinary rehabilitation after peripheral nerve damage may be further optimized by applying visuomotor strategies. This study is registered at ClinicalTrials.gov (NCT03441347).

| S-EPMC9896536 | biostudies-literature

Diaphragmatic Dysfunction due to Neuralgic Amyotrophy After SARS-CoV-2 Vaccination: A Case Report.

Project description:Neuralgic amyotrophy is an idiopathic neuropathy characterized by acute-onset pain, typically in the upper extremity or shoulder, followed by weakness of the associated muscles. Phrenic nerve involvement is rare. We report a 63-year-old man who presented with dyspnea and right shoulder pain after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. His chest radiograph showed an elevated right hemidiaphragm that was absent before vaccination. A pulmonary function test showed a restrictive pattern with a significant reduction (40%) in forced vital capacity in the supine position. Diaphragm ultrasonography revealed a reduction in both diaphragmatic excursion and a thickening fraction of the right hemidiaphragm. Electrophysiological studies suggested a right upper brachial plexopathy. Considering the temporal relationship between the vaccination and absence of other causes, SARS-CoV-2 vaccination was thought to be the reason for neuralgic amyotrophy with diaphragmatic dysfunction. As there was no evidence of hypoventilation or sleep disturbance that may require noninvasive ventilation, the patient was followed with conservative treatment with analgesics. During 8 months of follow-up, his shoulder pain was relieved significantly but dyspnea improved only slightly. Neuralgic amyotrophy is an under-diagnosed etiology of diaphragmatic dysfunction and should be considered in patients with dyspnea and shoulder pain.

| S-EPMC9530308 | biostudies-literature

Post-intensive care syndrome in primary care: The development of new diseases and primary care services utilisation - a prospective cohort study.

Project description:BackgroundPatients experience long-lasting health problems defined as post-intensive care syndrome (PICS) after Intensive Care Unit (ICU) admission. Little is known about PICS in primary care.ObjectivesTo investigate whether ICU survivors encounter more new International Classification of Primary Care-2 (ICPC-2) diagnoses and general practitioner (GP) contact compared to patients with similar comorbidity without ICU admission.MethodsProspective multicentre cohort study in three Dutch general practices. Numbers of disease-episodes and GP contacts of ICU survivors ≥ 16 years admitted between 2008 and 2017 were extracted from GPs' information systems. A non-ICU reference cohort was matched 1:1 for age, sex, follow-up period and comorbidity groups from patients' medical history. Negative binominal regression analysis was used to compare both cohorts 0-3, 3-6, 6-12 months, 1-2 and 2-5 years after ICU admission and 1 year prior to admission.ResultsICU survivors (n = 199) encountered more new disease-episodes 1 year before (mean 3.97 (95% confidence interval [CI] 3.50-4.52]]; reference 2.36 [1.28-3.17]) to 2-5 years after ICU admission (3.65 [3.15-4.26]; reference 2.86 [2.52-3.22]). ICU survivors also had more GP contacts 1 year before (mean 19.61 [17.31-22.17]; reference 10.02 [7.81-12.38]) to 2-5 years after ICU admission (18.53 [15.58-21.85]; reference 12.03 [10.33-13.91]). Patients with prior ICU admission did not encounter patterns in specific ICPC-2 chapters compared to non-ICU patients.ConclusionPatients admitted to the ICU encounter more new primary care disease-episodes and GP contacts. As patients present their symptoms to their GP first, it is therefore up to the GP to recognise these critical illness-related symptoms.

| S-EPMC10231043 | biostudies-literature

Pediatric Hereditary Neuralgic Amyotrophy: Successful Treatment With Intravenous Immunoglobulin and Insights Into <i>SEPT9</i> Pathogenesis.

Project description:Hereditary neuralgic amyotrophy is a rare disorder characterized by the sudden onset of recurrent episodes of painful brachial plexus neuropathies, followed by atrophy within a few weeks. The authors present the case of a 5-year-old boy who developed hereditary neuralgic amyotrophy in the right upper limb after a gastroenteritis illness. He made a full and rapid recovery with the use of intravenous immunoglobulin. A subsequent episode in the left upper limb during the course of intravenous immunoglobulin was significantly attenuated. A de novo c.262C>T mutation in exon 2 of the SEPT9 gene was identified. To our knowledge, he is the first pediatric patient with SEPT9 hereditary neuralgic amyotrophy to be treated with intravenous immunoglobulin. The authors hypothesize that the c.262C>T mutation in exon 2 of the SEPT9 gene generates pathology via the numerous isoforms under specific conditions and that intravenous immunoglobulin can play a role at the epigenetic level of improving dysfunctional SEPT9 expression.

| S-EPMC5417342 | biostudies-literature

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