polyneuropathy guidelines

BACKGROUND: Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression. This paper presents a novel mutation in ABHD12 in two affected siblings with PHARC syndrome phenotypes...

INTRODUCTION: Current guidelines for defining good outcomes in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) are predominately defined by experts. At present, we do not have a patient-anchored definition of what constitutes a "good" outcome. Our study aimed to assess the symptom burden of people living with CIDP, as well as satisfaction with treatments and clinical outcomes. METHODS: We conducted an online-survey in CIDP patients registered with the US and Canadian GBS/CIDP foundations...

The value of practice guidelines in the three most common autoimmune neuromuscular disorders, namely Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Myasthenia Gravis (MG) and Autoimmune Inflammatory Myopathies (AIM), has been extensively debated regarding their usefulness in clinical practice, objectivity and universal value considering that guidelines are also established regionally in certain countries. This commentary highlights common concerns on how guidelines are presently generated, pointing out: (a) non-sufficient diversity among Task-Force members to identify and address not only routine clinical and electrophysiology issues but also immunology, imaging, pathology, biomarkers, epidemiology or treatment economics; (b) Task-Force being often comprised by the same or seemingly like-minded members conveying the erroneous impression that experts with opposing views might have been excluded, even if this is clearly not the case; and (c) relying on web-based registries or retrospective data collections from heterogeneous sources...

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Intravenous immune globulin (IVIG) is an immune-modulating biologic therapy that is increasingly being used in neuromuscular disorders despite the paucity of high-quality evidence for various specific diseases. To address this, the AANEM created the 2009 consensus statement to provide guidance on the use of IVIG in neuromuscular disorders. Since then, there have been several randomized controlled trials for IVIG, a new FDA-approved indication for dermatomyositis and a revised classification system for myositis, prompting the AANEM to convene an ad hoc panel to update the existing guidelines...

BACKGROUND: Intravenous immunoglobulin (IVIG) replacement therapy is increasingly in demand. This study focused on the characteristics of IVIG usage and associated factors toward the frequency status of IVIG among patients in Hospital Kuala Lumpur. METHODS: A retrospective cross-sectional study was performed on patients who received IVIG in Hospital Kuala Lumpur. Data were extracted from the request forms for IVIG recorded in the Pharmacy Department from January 2018 until December 2019...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy that typically presents with progressive or relapsing, symmetric, proximal, and distal weakness of upper and lower limbs, sensory involvement of at least two limbs, and decreased or absent deep tendon reflexes. The symptoms of CIDP can be similar to those of other neuropathies, making diagnosis difficult, which can often lead to delays in correct diagnosis and treatment. The updated European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) 2021 guideline outlines a set of diagnostic criteria that help to identify CIDP with high accuracy and provides recommendations for the treatment of CIDP...

KEY CLINICAL MESSAGE: Guillain-Barré syndrome (GBS) is a rare but possible complication that may occur after COVID-19 vaccination. In this systematic review, we found that GBS presented in patients with an average age of 58. The average time for symptoms to appear was 14.4 days. Health care providers should be aware of this potential complication. ABSTRACT: Most instances of Guillain-Barré syndrome (GBS) are caused by immunological stimulation and are discovered after vaccinations for tetanus toxoid, oral polio, and swine influenza...

BACKGROUND: To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. METHODS: The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021)...

The global rise of prediabetes and diabetes has spawned an epidemic of complications associated with these conditions. Neuropathy is the most common consequence, with distal symmetric polyneuropathy (DSP) being the most prevalent. Diabetic neuropathy (DN) is a debilitating consequence of diabetes mellitus resulting in the highest morbidity and death, besides imposing a substantial financial burden on the patient. Loss of sensory function commencing distally in the lower limbs, accompanied by discomfort and considerable morbidity, characterizes diabetic neuropathy...

PURPOSE: Previous ultrasonographic studies of individuals with chronic inflammatory demyelinating polyneuropathy (CIDP) have shown nerve enlargement at several sites. This prospective study compares only the bilateral median and ulnar nerves of individuals with CIDP with reference values to determine the clinical usefulness of this focused approach as a diagnostic tool. METHODS: The cross-sectional area, echogenicity, and vascularity of the bilateral median and ulnar nerves of 25 subjects with CIDP were measured using ultrasound...

BACKGROUND: Diabetic sensorimotor polyneuropathy is an important risk factor for foot ulceration and amputation. Thus, patients with diabetes should be screened for this disorder according to local guidelines. An obstacle to the diagnosis of this disease may be the lack of unified diagnostic criteria due to the lack of properly validated scales used for assessment. AIM: To validate both sections (A and B) of the Michigan Neuropathy Screening Instrument (MNSI) in Polish (PL) patients with diabetes...

Neuromuscular ultrasound has become an integral part of the diagnostic workup of neuromuscular disorders at many centers. Despite its growing utility, uniform standard scanning techniques do not currently exist. Scanning approaches for similar diseases vary in the literature creating heterogeneity in the studies as reported in several meta-analysis. Moreover, neuromuscular ultrasound experts including the group in this study have different views with regards to technical aspects, scanning protocols, and the parameters that should be assessed...

BACKGROUND: Diabetic neuropathy is the most common microvascular complication of diabetes mellitus and a major risk factor for diabetes-related lower-extremity complications. Diffuse neuropathy is the most frequently encountered pattern of neurological dysfunction and presents clinically as distal symmetrical sensorimotor polyneuropathy. Due to the increasing public health significance of diabetes mellitus and its complications, screening for diabetic peripheral neuropathy is essential...

BACKGROUND: Painful diabetic peripheral neuropathy (PDPN) is a key concern in clinical practice. In this systematic review and meta-analysis, we compared duloxetine and placebo treatments in terms of their efficacy and safety in patients with PDPN. METHODS: Following the PRISMA guidelines, we searched the Cochrane Library, PubMed, and Embase databases for relevant English articles published before January 11, 2021. Treatment efficacy and safety were assessed in terms of pain improvement, patient-reported health-related performance, and patients' quality of life...

BACKGROUND: Patients with hereditary transthyretin amyloidosis (ATTRv) frequently experience symptoms of polyneuropathy (PN) that worsen over time and impair daily functioning. Previous analyses supported efficacy of inotersen, an antisense oligonucleotide, to slow neuropathic progression in patients with ATTRv-PN, as indicated by larger mean changes, relative to placebo, in total score and several subscales of the Neuropathy Impairment Score (NIS), and for the subset of NIS items specific to lower limbs (NIS-LL) for the overall study sample...

INTRODUCTION/AIMS: Outcomes in chronic inflammatory demyelinating polyneuropathy (CIDP) have been reported in longitudinal and cross-sectional studies. A considerable variation in long-term disease outcome has appeared in those reports. To overcome this uncertainty, a systematic review and meta-analysis was conducted on CIDP outcomes, including the parameters of case fatality rate, ambulation, physical ability, and remission. METHODS: In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic search was conducted in PubMed and EMBASE (OVID) for reports with at least 2 years of follow-up on patients with active or previously active CIDP that were published no later than May 12, 2022...

PURPOSE OF REVIEW: Peripheral nervous system vasculitides (PNSV) are a heterogeneous group of disorders with a clinical subset that may differ in prognosis and therapy. We provide a comprehensive update on the clinical assessment, diagnosis, complications, treatment, and follow-up of PNSV. RECENT FINDINGS: Progress in neuroimaging, molecular testing, and peripheral nerve biopsy has improved clinical assessment and decision-making of PNSV, also providing novel insights on how to prevent misdiagnosis and increase diagnostic certainty...

BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, progressive autoimmune disease causing peripheral nervous system dysfunction. Guidelines recommend immunoglobulin (IG) therapy as an immunomodulatory agent in CIDP. Drawbacks and unmet needs with intravenous immunoglobulin (IVIG) include adverse effects and wear-off effects, along with the burden of administration based on site of care. Subcutaneous administration of Hizentra, a subcutaneous immunoglobulin (SCIG) reduces patient burden by allowing self-administration outside the hospital setting and has fewer adverse events (AEs)...

RATIONALE: The coexistence of the extranidal marginal zone lymphoma (MZL) of mucosa-associated lymphoid tissue (MALT) and multiple myeloma (MM) is an exceedingly rare situation. The rare situation precludes any evidence-based guidelines for MZL or MM. PATIENT CONCERNS AND DIAGNOSES: We presented a unique case of the coexistence of primary mediastinal MALT lymphoma and MM like polyneuropathy, organomegaly, endocrinopathy, M-protein, skin syndrome. INTERVENTIONS AND OUTCOMES: The patient was first diagnosed with polyneuropathy, organomegaly, endocrinopathy, M-protein, skin syndrome in the department of neurology, then MM in the department of hematology, and the mediastinal MALT simultaneously coexisting with MM was found by biopsy in the department of thoracic surgery...