Sarcolemmal dysfunction in facioscapulohumeral dystrophy: An assessment using muscle velocity recovery cycles.

Objective: There is a need to develop novel facioscapulohumeral dystrophy (FSHD) biomarkers for use in clinical trials. We examined the muscle excitability properties in FSHD and their use as biomarkers of disease severity.

Methods: Muscle velocity recovery cycle (MVRC) and frequency ramp recordings were performed on the tibialis anterior (TA) and trapezius muscles in subjects with FSHD.

Hyperhidrosis: don't sweat it.

Hyperhidrosis is an under-reported and under-treated condition that causes significant patient morbidity. Secondary causes require consideration, but the vast majority of cases are idiopathic. The condition is encountered by a range of clinicians, including neurologists, dermatologists and endocrinologists, and it pays to be familiar with the range of highly effective treatment options available for the treatment of both focal and generalised sweating disorders.

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Objective: The hereditary spastic-ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long-read sequencing.

Sarcolemmal Excitability Properties of the Trapezius.

Introduction/aims: The sarcolemma can be probed in vivo using muscle excitability recordings. These techniques have been applied to the tibialis anterior and brachioradialis muscles in healthy and diseased states. We aimed to study and validate the trapezius as a more proximal muscle to be used for myopathic conditions.

Minor head trauma precipitating acute syndromes in neurogenetic disease.

Most minor head injuries have no immediate neurological sequelae. We present a case where acute neurological symptoms followed a very minor head injury, and an underlying genetic cause was identified. We highlight the role that head injuries, even when innocuous, may have in precipitating and worsening a neurogenetic disorder.

Muscular dystrophy as a cause of unilateral scapular winging.

Shoulder weakness with unilateral scapular winging is a common issue that initially presents to the general physician, sports physician or rheumatologist. Although most of these cases are neurogenic in nature, it is important to consider alternative causes for unilateral scapular winging. Muscular dystrophies can present with marked asymmetry, the most typical being facioscapulohumeral dystrophy (FSHD).

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

The hereditary cerebellar ataxias (HCAs) are rare, progressive neurologic disorders caused by variants in many different genes. Inheritance may follow autosomal dominant, autosomal recessive, X-linked or mitochondrial patterns. The list of genes associated with adult-onset cerebellar ataxia is continuously growing, with several new genes discovered in the last few years.

Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy.

Background And Aims: Imbalance is a prominent symptom of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Although upper limb tremor in CIDP is described, lower limb tremor has not been assessed. The aim of this study was to determine whether lower limb tremor was present in CIDP and assess potential relationships with imbalance.

A Prospective Study of Electromyographic Amplitude Changes During Intraoperative Neural Monitoring for Open Thyroidectomy.

Background: Intraoperative nerve monitoring (IONM) of the vagus and recurrent laryngeal nerve (RLN) enables prediction of postoperative nerve function. The underlying mechanism for loss of signal (LOS) in a visually intact nerve is poorly understood. The correlation of intraoperative electromyographic amplitude changes (EMG) with surgical manoeuvres could help identify mechanisms of LOS during conventional thyroidectomy.

Hypertrophic olivary degeneration associated with bilateral vocal cord adductor dystonia.

Background: Hypertrophic olivary degeneration (HOD) is a rare condition caused by lesions within the dentato-rubro-olivary pathway, resulting in ocular nystagmus and palatal myoclonus (oculopalatal tremor) but not usually dystonia. Dystonia is an uncommon association, and we present the first reported association of hypertrophic olivary degeneration with bilateral vocal cord dystonia.

Case Presentation: A 33 year old male presented initially with acute hydrocephalus on the background of previous ventriculoperitoneal (VP) shunting for previously treated medulloblastoma.

Chronic inflammatory demyelinating polyradiculoneuropathy-associated tremor: Phenotype and pathogenesis.

Background And Purpose: Tremor in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is underrecognized, and the pathophysiology remains incompletely understood. This study evaluated tremor in CIDP and tested the hypothesis, established in other demyelinating neuropathies, that tremor occurs due to mistimed peripheral inputs affecting central motor processing. Additionally, the tremor stability index (TSI) was calculated with the hypothesis that CIDP-related tremor is more variable than other tremor disorders.

Eculizumab for acute relapse of neuromyelitis optica spectrum disorder: Case report.

Introduction: Eculizumab has been shown to be an effective and typically well-tolerated medication in the treatment of neuromyelitis optica spectrum disorder (NMOSD) in maintaining disease remission in patients who are aquaporin-4 water channel autoantibody (AQP4-IgG) seropositive. The efficacy of eculizumab in an acute relapse of NMOSD however is still under review.

Case: We describe a 46 year-old female who presented with acute left monocular vision loss on a background of bilateral optic neuritis treated 15 years prior as suspected NMOSD.

Unusual presentations of central nervous system myeloid sarcoma.

Myeloid sarcoma (MS), also termed 'chloroma' or 'granulocytic sarcoma', is a tumour mass consisting of myeloid blasts occurring at an anatomical site other than the bone marrow. MS occurs in up to 8% of patients with acute myeloid leukaemia. While MS typically involves the skin or lymph nodes, almost any tissue can be affected, and symptoms largely depend on the organ involved and subsequent mass effect.

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore's ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and DNA methylation profiling of STR sites, from a list of predetermined candidates.

Serum electrolyte concentrations and skeletal muscle excitability in vivo.

Objective: Multi-fibre muscle velocity recovery cycle (MVRC) assessment is a well-tolerated method of evaluating sarcolemmal excitability in vivo that shows promise as a research tool and biomarker. MVRC parameters correlate with venous electrolyte concentrations in myopathies. We sought to determine the nature of any such relationships in individuals without muscle disease.