Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis.

Accuracy and reliability of magnetic resonance imaging in the diagnosis of idiopathic intracranial hypertension.

Purpose: To determine the diagnostic utility of brain magnetic resonance imaging (MRI) findings in patients with idiopathic intracranial hypertension (IIH) and to investigate the significance of evaluating radiological findings together with neurological and ophthalmological data in the diagnosis of IIH.

Materials And Methods: All consecutive patients diagnosed with IIH in our tertiary neuro-ophthalmology center between January 1, 2018 and March 15, 2020, were included in the study. The clinical, radiological, and ophthalmological findings of IIH patients were compared with the control group with similar demographic characteristics.

Physical and mental fatigue in myasthenia gravis and its correlation with other symptoms.

Introduction: Muscle weakness and easy fatigability are the clinical hallmarks of myasthenia gravis (MG). However, fatigue perception, which can be seen quite often in myasthenic patients, and its effect on the quality of life, irrespective of motor deficit, has not been elucidated yet. The aim is to evaluate the frequency of fatigue in myasthenic patients with nearly full muscle strength and the effect of fatigue on quality of life by assessing its correlation with other symptoms.

Neuropathic Pain Frequency in Neurology Outpatients: A Multicenter Study.

Introduction: Neuropathic pain is common, but the frequency of misdiagnosis and irrational treatment is high. The aim of this study is to evaluate the rate of neuropathic pain in neurology outpatient clinics by using valid and reliable scales and review the treatments of patients.

Methods: The study was conducted for 3 months in eleven tertiary health care facilities.

Impact of obstructive sleep apnea on neuromuscular transmission- a descriptive study.

: Obstructive sleep apnea (OSA) is a sleep disorder accompanied by intermittent hypoxia. Neuromuscular transmission (NT) is known to be disturbed under chronic hypoxia. In this descriptive study, it has been aimed to test NT under intermittent hypoxia in OSA.

Reference jitter values for the sternocleidomastoid muscle with concentric needle electrodes.

Background: The aim of this study was to establish reference jitter values for the voluntary activated sternocleidomastoid (SCM) muscle using a concentric needle electrode (CNE).

Methods: The study included 39 healthy participants (20 female and 19 male) aged 18-77 y. Jitter was expressed as the mean consecutive difference (MCD) of 80-100 consecutive discharges.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases.

Possible role of skeletal muscle mutation in apnea during seizure.

gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia-causing mutations experience severe life-threatening episodic laryngospasm with apnea. We have recently identified similar mutations in association with sudden infant death syndrome.

Carpal Tunnel Syndrome in Obstructive Sleep Apnea Patients.

Introduction: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy of the upper extremity. It is usually associated with the compression of the median nerve in the median groove. Because the main symptoms of CTS pain and numbness worsen at night, sleep disorders in CTS patients and the impact of preferred sleeping position on CTS development have been formerly studied.

Cutaneous silent period in myofascial pain syndrome.

Introduction: An increased response to painful stimuli without spontaneous pain suggests a role of central hyperexcitability of pain pathways in the pathogenesis of myofascial pain syndrome (MPS). In this study we aimed to test the hypothesis that spinal pain pathways are affected in MPS. We used cutaneous silent period (CSP) parameters to demonstrate the hyperexcitability of spinal pain pathways in MPS.

Brainstem Reflexes in Systemic Lupus Erythematosus Patients Without Clinical Neurological Manifestations.

Introduction: We aimed to assess central and peripheral nervous system involvement in systemic lupus erythematosus (SLE) patients without any neurological signs and symptoms by performing electrophysiological investigations.

Methods: Thirty-eight SLE patients and 35 healthy volunteers participated in this study. Peripheral nerve conduction and brainstem reflexes were evaluated by performing nerve conduction studies (NCSs) and blink reflex (BR) and masseter inhibitory reflex (MIR) recordings.

Somatosensory evoked potentials as a screening tool for diagnosis of spinal pathologies in children with treatment refractory overactive bladder.

Purpose: To evaluate the usefulness of somatosensory evoked potential as a screening tool for spinal pathologies in patients with treatment refractory overactive bladder.

Methods: This prospective study was performed between January 2011 and January 2014. Children >5 years old with treatment refractory overactive bladder were enrolled after exclusion of anatomical and neurological causes of incontinence.

Ulnar nerve entrapment at elbow in obstructive sleep apnea patients: a randomized controlled trial.

Purpose: Obstructive sleep apnea (OSA) is a highly prevalent disease. For diagnostic and therapeutic purposes, OSA has been divided into several subgroups. Positional OSA (POSA), the most frequent subgroup (56 %), is described as overall apnea hypopnea index (AHI) ≥5 and supine AHI at least twice as high when compared to non-supine AHI.

Medial plantar-to-radial amplitude ratio: does it have electrodiagnostic utility in distal sensory polyneuropathy?

Purpose Of The Study: We proposed a new electrophysiological parameter medial plantar (MP)-to-radial amplitude ratio (MPRAR), similar to sural-to-radial amplitude ratio (SRAR), in the diagnosis of distal sensory polyneuropathy (DSP), based on the concept that distal nerves are affected more and earlier than proximal nerves in axonal neuropathies. We aimed to investigate the diagnostic sensitivity of this parameter in diabetic DSP, together with sensitivities of SRAR and MP nerve action potential (NAP) amplitude.

Materials And Methods: In 124 healthy controls and 87 diabetic patients with clinically defined DSP and normal sural responses, we prospectively performed sensory nerve conduction studies (NCS), and evaluated the MP NAP amplitude, MPRAR and SRAR values.

Motor-Unit Number Estimation Is Sensitive in Detecting Motor Nerve Involvement in Patients with Carpal Tunnel Syndrome.

Background And Purpose: We compared the motor-unit number estimation (MUNE) findings in patients who presented with signs and/or findings associated with carpal tunnel syndrome (CTS) and healthy controls, with the aim of determining if motor-unit loss occurs during the clinically silent period and if there is a correlation between clinical and MUNE findings in CTS patients.

Methods: The study investigated 60 hands of 35 patients with clinical CTS and 60 hands of 34 healthy controls. Routine median and ulnar nerve conduction studies and MUNE analysis according to the multipoint stimulation method were performed.

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.

The reliability of medial and lateral plantar nerve recordings in healthy elderly individuals.

The aim of this study was to investigate the reliability of medial plantar (MP) and lateral plantar (LP) nerve conduction studies (NCS) in healthy individuals aged >65 years, and to obtain reference values for this age group. The study included 81 healthy subjects. MP response was absent in only 2 subjects, but LP response could not be obtained bilaterally in 43 of the 81 subjects.

Palmar cutaneous nerve conduction in patients with carpal tunnel syndrome.

Objective: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conduction in patients with clinically diagnosed carpal tunnel syndrome (CTS), to compare PCBm conduction with that of the median and ulnar nerves, and to determine the PCBm conduction abnormality rate in patients with CTS.

Materials And Methods: The study included 99 hands of 60 patients with clinical CTS and 38 hands of 38 healthy controls. Sensory nerve conduction study (NCS) was performed on the median nerve, ulnar nerve, and PCBm, and onset latency, conduction velocity and amplitude were recorded.