Two-decade battle with myasthenia gravis: A breakthrough case report on the long-term success with eculizumab and ravulizumab treatment.

This unique case of generalized myasthenia gravis shows sustained stability of a patient's condition for 3 years with eculizumab/ravulizumab treatment following 16 years of refractory disease. It highlights the long-term effectiveness of C5 inhibitors in a real-world setting, aiding physicians in their decision-making for refractory cases and treatment discontinuation scenarios.

Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.

Introduction/aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.

Methods: We used a nationwide approach to collect Austrian patients with genetically confirmed CMS.

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Background And Purpose: Hereditary myopathies with limb-girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large cohort of patients with LGW.

Methods: This nationwide cohort study included patients with LGW suspected to be associated with hereditary myopathies.

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Background: Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominantly inherited disorder caused by an accumulation of amyloid fibrils in tissues due to mutations in the transthyretin () gene. The prevalence of hATTR is still unclear and likely underestimated in many countries. In order to apply new therapies in a targeted manner, early diagnosis and knowledge of phenotype-genotype correlations are mandatory.

Cardiac involvement in a cross-sectional cohort of myotonic dystrophies and other skeletal myopathies.

Aims: Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients with skeletal muscle disease presenting at a tertiary care neuromuscular centre.

Methods And Results: We systematically investigated patients with skeletal myopathies and comprehensively analysed their cardiac phenotype including 24 h electrocardiogram, echocardiography with strain analyses, contrast-enhanced cardiac magnetic resonance imaging, and, if at increased risk of coronary artery disease, computed tomography coronary angiography.

High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria.

Background: Most patients with myasthenia gravis (MG) need long-term immunosuppressive therapy. However, conventional agents may have intolerable side effects, take too long or fail to achieve disease control. Rituximab (RTX) has emerged as an off-label treatment for refractory MG, but data on its use are still sparse.

Multifocal motor neuropathy in Austria: a nationwide survey of clinical features and response to treatment.

Background And Objectives: Multifocal motor neuropathy (MMN) is a rare neuropathy and detailed descriptions of larger patient cohorts are scarce. The objective of this study was to evaluate epidemiological, clinical, and laboratory features of MMN patients and their response to treatment in Austria and to compare these data with those from the literature.

Methods: Anonymized demographic and clinical data about MMN patients until 31.

Elevated Cardiac Troponin T in Patients With Skeletal Myopathies.

Background: Cardiac troponins are often elevated in patients with skeletal muscle disease who have no evidence of cardiac disease.

Objectives: The goal of this study was to characterize cardiac troponin concentrations in patients with myopathies and derive insights regarding the source of elevated troponin T measurements.

Methods: Cardiac troponin T (cTnT) and cardiac troponin I (cTnI) concentrations were determined by using high sensitivity assays in 74 patients with hereditary and acquired skeletal myopathies.

[Migraine prophylaxis with trigger point therapy and lymphatic drainage : A pilot study].

Migraine is a complex, multifactorial, neurovascular disorder of the brain. Patients frequently have pericranial trigger points, but trigger point (TP) therapy for migraine has not yet been adequately studied. In contrast, lymphatic drainage (LD) has been studied in patients with migraine.

Multimodal assessment of white matter tracts in amyotrophic lateral sclerosis.

Several quantitative magnetic resonance imaging (MRI) techniques have been proposed to investigate microstructural tissue changes in amyotrophic lateral sclerosis (ALS) including diffusion tensor imaging (DTI), magnetization transfer imaging, and R2* mapping. Here, in this study, we compared these techniques with regard to their capability for detecting ALS related white matter (WM) changes in the brain and their association with clinical findings. We examined 27 ALS patients and 35 age-matched healthy controls.

The Value of Median Nerve Sonography as a Predictor for Short- and Long-Term Clinical Outcomes in Patients with Carpal Tunnel Syndrome: A Prospective Long-Term Follow-Up Study.

Objectives: To investigate the prognostic value of B-mode and Power Doppler (PD) ultrasound of the median nerve for the short- and long-term clinical outcomes of patients with carpal tunnel syndrome (CTS).

Methods: Prospective study of 135 patients with suspected CTS seen 3 times: at baseline, then at short-term (3 months) and long-term (15-36 months) follow-up. At baseline, the cross-sectional area (CSA) of the median nerve was measured with ultrasound at 4 levels on the forearm and wrist.

The anti-VLA-4 antibody natalizumab induces erythroblastaemia in the majority of the treated patients with multiple sclerosis.

The presence of erythroblasts in the peripheral blood is generally associated with severe underlying disorders. The anti-very late antigen-4 (anti-VLA-4) antibody natalizumab, which is approved for treatment of multiple sclerosis, mediates an increase in circulating haematopoietic stem cells and may also trigger erythroblastaemia. We investigated the prevalence of erythroblastaemia in sequential blood smears of 14 natalizumab-treated and 14 interferon-treated patients with multiple sclerosis.

Hirayama disease in Austria.

Objectives: Hirayama disease (HD) is a segmental cervical myelopathy which affects the C7-D1 myotomes and presents with unilateral or asymmetric upper limb weakness/wasting. The study aimed at systematically collecting cases of HD in Austria and at describing and discussing their presentation on clinical and instrumental investigations and at comparing them with cases reported from other countries.

Methods: Neurological Departments of secondary and tertiary centers and colleagues in outpatient units involved in the management of neuromuscular disorders in Austria were contacted and asked to provide standardised data about their HD cases.

Ultrasound for diagnosis of carpal tunnel syndrome: comparison of different methods to determine median nerve volume and value of power Doppler sonography.

Objective: To compare ultrasound measurement of median nerve cross-sectional area (CSA) at different anatomical landmarks and to assess the value of power Doppler signals within the median nerve for diagnosis of carpal tunnel syndrome (CTS).

Methods: A prospective study of 135 consecutive patients with suspected CTS undergoing two visits within 3 months. A final diagnosis of CTS was established by clinical and electrophysiological findings.

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.

Background: X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1). Cardiac involvement was suspected in initial publications. We now systematically analyzed the association of the FHL1 genotype with the cardiac phenotype to establish a potential cardiac involvement in the disease.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG). Pure SPG is characterised by progressive spasticity and weakness of the lower-limbs, and occasionally sensory disturbances or bladder dysfunction. Complex SPGs additionally include cognitive impairment, dementia, epilepsy, extrapyramidal disturbances, cerebellar involvement, retinopathy, optic atrophy, deafness, polyneuropathy, or skin lesions in the absence of coexisting disorders.

Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).

Four-and-a-half LIM domain protein 1 isoform A (FHL1A) is predominantly expressed in skeletal and cardiac muscle. Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy (XMPMA). We here studied myoblasts from XMPMA patients.

Early and reliable detection of herpes simplex virus type 1 and varicella zoster virus DNAs in oral fluid of patients with idiopathic peripheral facial nerve palsy: Decision support regarding antiviral treatment?

Idiopathic peripheral facial nerve palsy has been associated with the reactivation of herpes simplex virus type 1 (HSV-1) or varicella zoster virus (VZV). In recent studies, detection rates were found to vary strongly which may be caused by the use of different oral fluid collection devices in combination with molecular assays lacking standardization. In this single-center pilot study, liquid phase-based and absorption-based oral fluid collection was compared.

Mapping of iron deposition in conjunction with assessment of nerve fiber tract integrity in amyotrophic lateral sclerosis.

Purpose: To test if and where increased iron accumulation occurs in amyotrophic lateral sclerosis (ALS) by quantitative mapping of iron deposition and to relate these findings to white matter tract degeneration assessed by diffusion tensor imaging (DTI).

Materials And Methods: Fifteen patients with ALS and 15 age- and gender-matched controls underwent MRI of the brain to obtain R(2)* relaxation rate and DTI measurements, focusing on the corticospinal tract (CST) and on deep gray matter structures, using tract-based spatial statistics (TBSS).

Results: Compared with controls, ALS patients showed reduced fractional anisotropy values along the mesencephalic CST, suggesting disintegration of fiber tracts.

Wolff-Parkinson-White syndrome as initial manifestation of Becker muscular dystrophy.

Background: Cardiac involvement may precede the onset of muscular manifestations in Becker muscular dystrophy (BMD), but Wolff-Parkinson-White (WPW) syndrome has not been reported as initial cardiac manifestation of BMD.

Case Study: In a 43-year-old, HIV-negative male, WPW syndrome was diagnosed at age 26 years upon a routine surface ECG, carried out for recurrent palpitations since childhood. Since then, WPW syndrome was occasionally found on repeated cardiologic follow-up investigations.

Tolperisone: a typical representative of a class of centrally acting muscle relaxants with less sedative side effects.

Tolperisone, a piperidine derivative, is assigned to the group of centrally acting muscle relaxants and has been in clinical use now for decades. The review summarizes the known pharmacokinetics, pharmacodynamics, toxicology and side effects in humans and the clinical use of tolperisone. A future perspective for further exploration of this drug is given.