Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

[Steinert's myotonic dystrophy and thromboembolic disease]. / Distrofia miotónica de Steinert y enfermedad tromboembólica.

TITLE: Distrofia miotónica de Steinert y enfermedad tromboembólica.

Neurological complications in critical patients with COVID-19. / Complicaciones neurológicas en pacientes críticos por SARS-CoV-2.

INTRODUCTION: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. PATIENTS AND METHODS: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. RESULTS: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P=.002; 95%CI: 4.032-6.022; OR: 3,594). CONCLUSIONS: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.

[Adult myotonic dystrophy type 1: an update]. / Actualización en distrofia miotónica tipo 1 del adulto.

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter.

[Therapeutic drug repositioning and Steinert's disease]. / Reposicionamiento terapéutico y enfermedad de Steinert.

TITLE: Reposicionamiento terapéutico y enfermedad de Steinert.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Neurological complications in critical patients with COVID-19]. / Complicaciones neurológicas en pacientes críticos por SARS-CoV-2.

Introduction: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. Patients and methods: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. Results: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P = .002; 95% CI: 4.032-6.022; OR: 3,594). Conclusions: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.

[Latency values of 248 H reflexes in 124 normal subjects]. / Valores de latencia de 248 reflejos H en 124 sujetos normales.

INTRODUCTION: The Hoffmann reflex or H reflex is an electrical counterpart of the myotatic reflex. In normal adults is elicited with stimulating the tibial and the median nerves. It is useful as an adjunct study of neuroexamination and assesses the corresponding arc reflexes in their integrity. SUBJECTS AND METHODS: 248 H reflexes were studied stimulating the tibial nerve in 124 healthy subjects. RESULTS: The latency values were: minimum 23.6 ms; maximum 29.8 ms; mean value 27.6 ± 1.41 ms. CONCLUSION: This work explains the technique to obtain the H reflex and discusses the need for normalized values for each neurophysiology lab.

[Meralgia paraesthetica: a report on a series of 140 cases]. / Meralgia parestésica: a propósito de una serie de 140 casos.

INTRODUCTION: Meralgia paraesthetica is a pathology that is frequently seen in visits to extra-hospital neurology services. Nevertheless, the diagnosis, treatment and prognosis of this condition remain somewhat unclear. PATIENTS AND METHODS: A retrospective study was conducted involving 140 patients. Data were collected concerning demographic aspects, clinical picture, diagnostic study, aetiology, treatment and progression. RESULTS: There was a predominance of males, with a mean age of 54 years. The mean follow-up time was 25 months. The symptoms that were reported were as follows: numbness, burning pain, tingling or prickling in the nerve territory. Hypaesthesia was the most frequent sign found in the examination. History of another compressive neuropathy was present in 13.6% of patients. The diagnosis was based on the patient record and the neurological examination. The neurophysiological study and complementary tests were reserved for atypical cases. The most common causation was spontaneous and only three cases were found to be secondary to a structural lesion. A third of the patients were receiving pharmacological treatment. Although the clinical picture was benign, in most cases it tended to become chronic. Patients treated pharmacologically did not show a significant improvement in comparison to those who were not given treatment. The most important data for forecasting improvement of the clinical picture were the identification and correction of the factors precipitating compression of the nerve. CONCLUSIONS: Meralgia paraesthetica is a frequent, benign pathology but with a tendency to become chronic that responds poorly to pharmacological treatment. It is important to identify and correct mechanical factors and only in exceptional cases is it secondary to a structural lesion.

[A retrospective study comparing two formulations of valproic acid]. / Estudio retrospectivo comparando dos formulaciones de ácido valproico.

INTRODUCTION: Valproic acid is available in two different presentations, Depakine and Depakine Crono. Equivalences in plasmatic levels, efficacy and adverse effects between these two formulations are not fully established. AIM: To compare plasmatic levels, efficacy and plasmatic levels between Depakine and Depakine Crono. PATIENTS AND METHODS: We studied a retrospective series of 238 patients in treatment with Depakine or Depakine Crono and compared plasmatic levels, efficacy and adverse effects between both formulations. RESULTS: A total of 173 patients had taken one formulation and 54 both. Plasmatic levels were similar in both groups. There were more significantly more patients free of seizures among the Depakine Crono group. Significantly better outcomes were seen with Depakine Crono with respect to secondary effects. Adverse effects are significantly less frequent in men than in women. The higher the dose, the higher the incidence of adverse events. CONCLUSIONS: Depakine Crono seems to obtain similar plasmatic levels, is at least as efficacious and is associated with less adverse events that Depakine.

[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. / Romboencefalitis por Listeria de presentación equívoca.

INTRODUCTION: Rhombencephalitis due to Listeria monocytogenes may present in a variety of forms. CASE REPORT: We describe the case of a 76 years old male presenting with an acute symmetrical palsy of fifth, seventh, ninth-tenth cranial nerves, ophthalmoparesia and miosis, without evident signs of long tract lesion, mimicking a peripheral nervous system or neuromuscular junction disease. The results of the blood cultures and the magnetic resonance imaging gave the diagnosis of rhombencephalitis due to Listeria. CONCLUSIONS: Rhombencephalitis due to Listeria monocytogenes may present as a symmetric palsy of cranial nerves, therefore it can mimic a cranial nerves multineuritis syndrome.