Refractory myasthenia gravis treated with autologous hematopoietic stem cell transplantation.

Objectives: Patients with refractory myasthenia gravis (MG) have few treatment options. Autologous hematopoietic stem cell transplantation (HSCT) has been used to treat immune diseases; however, its use in the treatment of MG is not broadly considered. Our objective is to report on the efficacy and safety of HSCT in refractory MG.

Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review.

Idiopathic inflammatory myopathies (IIMs) are rare disorders characterized by inflammation of skeletal muscle, which can result in fatty replacement of muscle, muscle atrophy, and subsequent weakness. Therapeutic advancements have improved clinical outcomes but impose an economic impact on healthcare systems. We aimed to summarize the direct and indirect costs associated with IIMs in a systematic review (PROSPERO Registration #CRD42023443143).

Emerging and established biomarkers of oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a rare, primarily autosomal dominant, late onset muscular dystrophy commonly presenting with ptosis, dysphagia, and subsequent weakness of proximal muscles. Although OPMD diagnosis can be confirmed with high confidence by genetic testing, the slow progression of OPMD poses a significant challenge to clinical monitoring and a barrier to assessing the efficacy of treatments during clinical trials. Accordingly, there is a pressing need for more sensitive measures of OPMD progression, particularly those which do not require a muscle biopsy.

Novel Homozygous Variant in in Siblings With Hereditary Motor Neuropathy.

Background And Objectives: Coenzyme Q (CoQ) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ), the second-to-last step in the CoQ biosynthesis pathway. We report a consanguineous family presenting with a hereditary motor neuropathy associated with a homozygous c.

Isolated Internuclear Ophthalmoplegia as an Embolic Complication of Transcatheter Aortic Valve Implantation.

An 83-year-old male developed horizontal diplopia immediately following elective transfemoral transcatheter aortic valve implantation (TAVI). On right gaze, left eye adduction was impaired while there was horizontal nystagmus of the abducting right eye, representative of internuclear ophthalmoplegia (INO). The remainder of the neurological examination was normal.

Vaccination against COVID-19 does not lead to exacerbation in patients with myasthenia gravis.

See article on pages 558‐561 in volume 66, Issue 5, November issue.

Does Diabetes Alter CSF Total Protein Levels? A Retrospective Cohort Study.

Background And Purpose: Elevation of total protein level in cerebrospinal fluid (CSF-TP) in diabetic patients is often disregarded by clinicians. However, existing studies on the topic have significant limitations, and therefore we aimed to explore the relationship between diabetes and CSF-TP in a large database of CSF samples.

Methods: Retrospective review of all diagnostic lumbar punctures at the Ottawa Hospital between 1996-2016.

Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1.

Background: Myotonic dystrophy type 1 (DM1) is a hereditary muscular dystrophy affecting ∼2.1-14.3/100,000 adults.

Laryngospasm in amyotrophic lateral sclerosis.

Introduction: Laryngospasm is an involuntary, sustained closure of sphincter musculature that leads to an unpleasant subjective experience of dyspnea and choking. It is an underreported symptom in amyotrophic lateral sclerosis (ALS). In this study we aimed to better characterize the prevalence and clinical characteristics of laryngospasm in ALS patients.

Autologous Hematopoietic Stem Cell Transplantation for Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Background: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) refractory to conventional therapy can lead to marked disability and represents a therapeutic challenge.

Objective: To report five cases of treatment-refractory disabling CIDP treated with autologous hematopoietic stem cell transplantation (AHSCT).

Methods: This was a retrospective cohort study from a tertiary care referral center for both neuromuscular disease and AHSCT.

Temporal evolution of nerve conduction study abnormalities in anti-myelin-associated glycoprotein neuropathy.

Background: A distal-predominant demyelinating symmetric pattern is most frequent in patients with neuropathy associated with anti-myelin-associated glycoprotein (MAG) antibodies. The literature however lacks longitudinal data to describe whether this is consistent over time.

Methods: From the Ottawa Neuromuscular Center database, we identified 23 patients with both immunoglobulin M gammopathy and anti-MAG antibodies.

Correction: Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture.

[This corrects the article DOI: 10.1371/journal.pone.

Myofibrillar Myopathy Mimicking Polyneuropathy.

A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on needle EMG. Tests for acquired and genetic causes of polyneuropathy were unrevealing.

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development.

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10 years, of the number of causal genes identified for inherited neuromuscular disorders. However, around half of patients, whether children or adults, do not receive a molecular diagnosis after initial diagnostic workup. Massively parallel technologies targeting RNA, proteins, and metabolites are being increasingly used to diagnose these unsolved cases.

Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture.

Purpose: To assess whether there is a measurable impairment of median nerve conduction study parameters with uncomplicated distal radius fracture.

Methods: Patients were assessed prospectively at the time of cast removal (visit 1) after a standard 6-8 week immobilization for uncomplicated distal radius fracture. Patients with prior entrapment neuropathy or polyneuropathy were excluded.