Treatment response in patients with clinical and supportive laboratory features of chronic inflammatory demyelinating polyneuropathy without demyelinative findings on nerve conduction studies: A retrospective study.

Introduction/aims: Not all patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have evidence of demyelination on nerve conduction studies (NCS). Patients with "supportive" evidence of CIDP on cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), ultrasound (US), or nerve biopsy but not on NCS, often receive immunomodulating therapy. We evaluated the treatment response of patients with clinical and supportive features of CIDP lacking NCS evidence of demyelination.

Diagnosis of Ulnar Neuropathy at the Elbow Using Ultrasound - A Comparison to Electrophysiologic Studies.

Purpose: Given the relatively high false negative rate of electrodiagnostic studies (EDX) in patients with clinically diagnosed ulnar neuropathy at the elbow (UNE), we sought to determine whether an alternative objective test could more effectively detect UNE. Additionally, we proposed to determine the relationship between the cross-sectional area (CSA) of the ulnar nerve on ultrasound (US), EDX, and clinical symptoms.

Methods: This was a retrospective study of patients presenting with symptomatic UNE.

A systematic review of the potential consequences of abnormal serum levels of vitamin B6 in people living with Parkinson's disease.

The prevalences of polyneuropathy and epilepsy are higher in people living with Parkinson's disease (PwPD) when compared to older adults. Vitamin B6 is widely available and affordable. PwPD are at higher risk of having abnormal serum levels of vitamin B6, which are associated with polyneuropathy and epilepsy that are potentially preventable and treatable.

Clinical Spectrum and Prognosis in Patients With Acute Nutritional Axonal Neuropathy.

Background And Objectives: To describe the clinical, micronutrient, and electrophysiologic spectra and prognosis in patients with acute nutritional axonal neuropathy (ANAN).

Methods: Patients with ANAN were identified between 1999 and 2020 by a retrospective review of our EMG database and electronic health records and categorized on clinical and electrodiagnostic grounds, as pure sensory, sensorimotor, or pure motor; and by risk factor (alcohol use disorder, bariatric surgery, or anorexia). Laboratory abnormalities were recorded including thiamine, vitamin B, B, and E, folate, and copper.

Recovery of foot drop in chronic inflammatory demyelinating polyneuropathy (CIDP).

Introduction/aims: Foot drop is common in chronic inflammatory demyelinating polyneuropathy (CIDP), but its prognosis is uncertain.

Methods: CIDP patients with less than anti-gravity strength (<3/5 power) of ankle dorsiflexion (ADF) on Medical Research Council manual muscle testing on presentation at our center were identified by retrospective review. After initiation of standard treatment, ADF power was serially tabulated, and predictors of recovery were determined.

Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.

Introduction: The long exercise test (LET) is used to assess the diagnosis of periodic paralysis (PP), but LET methodology and normal "cutoff" values vary.

Methods: To determine optimal LET methodology and cutoffs, we reviewed LET data (abductor digiti minimi motor response amplitude, area) from 55 patients with PP (32 genetically definite) and 125 controls. Receiver operating characteristic curves were constructed, and area under the curve (AUC) was calculated to compare (1) peak-to-nadir versus baseline-to-nadir methodologies and (2) amplitude versus area decrements.

Pediatric CIDP: Clinical Features and Response to Treatment.

Objectives: Childhood chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) responds favorably to immunomodulatory treatment. However, the optimal sequencing and selection of immunotherapy is uncertain.

Methods: Using accepted diagnostic criteria, pediatric patients with CIDP seen at our center from 1999 to 2015 were identified retrospectively through medical record review.

Acute nutritional axonal neuropathy.

Introduction: This study describes clinical, laboratory, and electrodiagnostic features of a severe acute axonal polyneuropathy common to patients with acute nutritional deficiency in the setting of alcoholism, bariatric surgery (BS), or anorexia.

Methods: Retrospective analysis of clinical, electrodiagnostic, and laboratory data of patients with acute axonal neuropathy.

Results: Thirteen patients were identified with a severe, painful, sensory or sensorimotor axonal polyneuropathy that developed over 2-12 weeks with sensory ataxia, areflexia, variable muscle weakness, poor nutritional status, and weight loss, often with prolonged vomiting and normal cerebrospinal fluid protein.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Objectives: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine release.

Methods: We performed detailed clinical and neurophysiologic assessment in 2 multigenerational families with dominant SYT2 mutations (c.920T>G [p.

Myotonic dystrophy health index: Correlations with clinical tests and patient function.

Introduction: The Myotonic Dystrophy Health Index (MDHI) is a disease-specific patient-reported outcome measure. Here, we examine the associations between the MDHI and other measures of disease burden in a cohort of individuals with myotonic dystrophy type-1 (DM1).

Methods: We conducted a cross-sectional study of 70 patients with DM1.

Infectious neuropathies.

Purpose Of Review: Infections are important, potentially treatable causes of peripheral nervous system disease. This article reviews the clinical presentation and management of several common peripheral nervous system diseases due to viral, bacterial, spirochetal, and parasitic infections.

Recent Findings: The clinical presentation and evaluation of infectious peripheral nervous system diseases are well established.

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).

Visualization of the diaphragm muscle with ultrasound improves diagnostic accuracy of phrenic nerve conduction studies.

Introduction: Evaluation of phrenic neuropathy (PN) with phrenic nerve conduction studies (PNCS) is associated with false negatives. Visualization of diaphragmatic muscle twitch with diaphragm ultrasound (DUS) when performing PNCS may help to solve this problem.

Methods: We performed bilateral, simultaneous DUS-PNCS in 10 healthy adults and 12 patients with PN.

Electrodiagnosis of ulnar neuropathy at the elbow (Une): a Bayesian approach.

Introduction: In ulnar neuropathy at the elbow (UNE), we determined how electrodiagnostic cutoffs [across-elbow ulnar motor conduction velocity slowing (AECV-slowing), drop in across-elbow vs. forearm CV (AECV-drop)] depend on pretest probability (PreTP).

Methods: Fifty clinically defined UNE patients and 50 controls underwent ulnar conduction testing recording abductor digiti minimi (ADM) and first dorsal interosseous (FDI), stimulating wrist, below-elbow, and 6-, 8-, and 10-cm more proximally.

The diagnosis and treatment of myotonic disorders.

Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing. Research interest in the myotonic disorders continues to expand rapidly, which justifies a review of the scientific bases, clinical manifestations, and numerous therapeutic approaches associated with these disorders.

Double trouble in a patient with myotonia.

Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes. Late onset acid maltase deficiency (AMD) is characterised by progressive respiratory and proximal muscle weakness; electrical but not clinical myotonia can be observed. Case report of a unique patient with concurrent NDM and AMD.

Electrodiagnosis of myotonic disorders.

Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.

Unexpected neuroimaging abnormalities in patients with apparent C8 radiculopathy: broadening the clinical spectrum.

Introduction: C8-root impingement by C7/T1 lesions on neuroimaging studies is not consistently observed in C8 radiculopathy. We hypothesized that C7 or T1 root lesions (with a pre- or postfixed plexus) or cervical myelopathy might explain some "C8 radiculopathies" without C8 root compression.

Methods: Retrospective analysis of cervical neuroimaging in 31 consecutive patients with EMG-confirmed C8 radiculopathy.