Transcultural adaptation and validation of the Spanish-language version of ACTIVLIM in adults with inherited myopathies using the Rasch model.

INTRODUCTION: ACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies. PATIENTS AND METHOD: A Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies. The psychometric properties of the questionnaire were assessed using the Rasch model. Floor and ceiling effects were estimated. Unidimensionality was evaluated with a principal component analysis of the residuals of the model, and using infit and outfit statistics. We estimated reliability with the person separation reliability index and invariance with differential item functioning. External construct validity was tested through correlation with the Brooke scale, the Vignos scale, the Functional Independence Measure scale, and floor-to-stand time. Test-retest reliability was evaluated with the intraclass correlation coefficient and differential item functioning. RESULTS: The psychometric analysis of the Spanish-language version of ACTIVLIM demonstrated that floor effect was absent, although a modest ceiling effect was identified. The instrument displayed unidimensionality, good internal consistency, external construct validity, and good test-retest reliability. CONCLUSION: The Spanish-language version of ACTIVLIM is a valid and reliable measurement instrument for assessing activity limitations in patients with inherited myopathies.

Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances.

PURPOSE: Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or degenerative nature of these abnormalities, and their progression over time, remains unclear. The aim of this study is to perform a longitudinal assessment of imaging and cognitive performances in a group of patients with DM1. METHODS: A longitudinal observational study was conducted in a group of 33 DM1 patients. All patients underwent cognitive and MRI evaluation, including the use of structural and diffusion tensor imaging techniques, at baseline and follow-up evaluation (4 years). Longitudinal changes in white matter lesion (WML), volumetric analysis, and diffusivity values were assessed and correlated with neuropsychological test findings. RESULTS: An increase in WML was observed in 16 patients (48.5%). An increase in ventricular system volume and a decrease in volume of the left thalamus, caudates, putamen, and hippocampus were observed (p < 0.001). Global cortical volume showed a significant decrease (p < 0.001), although no changes were observed in white matter volume. A significant increase in mean diffusivity and decrease in fractional anisotropy for the white matter were found (p < 0.001). Neuropsychological evaluation showed a significant deterioration in test performance that measures working memory (Letter-Number Sequencing, p = 0.049) and visuospatial skills (Benton Visual Retention Test, p = 0.001). These findings were significantly associated with WML load (working memory p = 0.002 and visuospatial skills p = 0.021) and mean diffusivity increase (visuospatial skills p = 0.003 in the corpus callosum and working memory p = 0.043 in the right cerebral white matter). CONCLUSION: White matter and grey matter involvement in DM1 patients is progressive. Patients experience a worsening in cognitive impairment that correlates with white matter involvement. These findings support the neurodegenerative nature of this disease.

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.

Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation.

OBJECTIVE: Myotonic dystrophy type 1 (DM1), the most prevalent inherited neuromuscular disease in adults, is a genetic multisystem disorder with a well-established but not well-characterized cerebral involvement. The aim of this study was to evaluate the presence of white matter and gray matter abnormalities in DM1 patients and to investigate their relationship with neurocognitive dysfunction. METHODS: A total of 42 DM1 patients and 42 healthy controls were included in the study. Clinical, cognitive, and magnetic resonance imaging evaluations, including the use of structural and diffusion tensor imaging (DTI) techniques, were performed. White matter lesion (WML) load, volumetric analysis, and diffusivity changes were assessed and correlated with clinical and neuropsychological test findings. RESULTS: WMLs were significantly more frequent in DM1 patients (p < .001), and anterior temporal lobe lesions were only found in the patient group. Global and regional cortical volume loss and corpus callosum atrophy were found. Diffuse white matter DTI abnormalities, including fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity were observed with sparing of the internal capsule. Subcortical structures showed volume loss and increased median diffusivity. Neuropsychological evaluation showed significant impairment in several cognitive functions, but only visuospatial impairment was correlated with white matter abnormalities and cortical atrophy. Daytime sleepiness was associated with WML and ventral diencephalon and pallidum volume loss. CONCLUSION: DM1 produces a widespread involvement of white matter and gray matter, including cortical and subcortical structures. These structural abnormalities are involved in the progressive neuropsychological functional impairment in these patients.

Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry.

BACKGROUND AND PURPOSE: Myasthenia gravis (MG) may become life-threatening if patients have respiratory insufficiency or dysphagia. This study aimed to determine the incidence, demographic characteristics, risk factors, response to treatment and outcome of these life-threatening events (LTEs) in a recent, population-based sample of MG patients. METHODS: A retrospective analysis of MG patients who presented with an LTE between 2000 and 2013 was performed. Participants were identified from a neuromuscular diseases registry in Spain that includes 648 patients with MG (NMD-ES). RESULTS: Sixty-two (9.56%) patients had an LTE. Thirty-two were classified as class V according to the MG Foundation of America, and 30 as class IVB. Fifty per cent were previously diagnosed with MG and median duration of the disease before the LTE was 24 months (3-406). The most common related factor was infection (n = 18). All patients received intravenous human immunoglobulin; 11 had a second infusion and six had plasma exchange. Median time to feeding tube removal was 13 days (1-434). Median time to weaning from ventilation was 12 days (3-176), and it was significantly shorter in late onset MG (≥50 years) (P = 0.019). LTEs improved <2 weeks in 55.8% but did not improve until after 1 month in 20% of patients. Four patients died. No other factors influenced mortality or duration of LTEs. CONCLUSIONS: The percentage of LTEs in MG patients was low, particularly amongst those previously diagnosed and treated for the disease. The significant percentage of treatment-resistant LTEs indicates that more effective treatment approaches are needed for this vulnerable sub-population.

[Stroke in the XXI century. Emergency care]. / El ictus en el siglo XXI. Tratamiento de urgencia.

Cerebrovascular diseases have reached epidemic proportions worldwide. They are the major cause of mortality in developed countries, accounting for over one-quarter of worldwide documented deaths, and the leading cause of severe disability in adults. Given that Spain will become one of the countries most affected by population ageing, an increase in the incidence of these diseases is expected in coming years. Several studies have reported that public levels of awareness of stroke warning signs, symptoms and risk factors are relatively low. Information campaigns aimed at increasing these levels of awareness and considering stroke as a neurological emergency are needed. The stroke code is a system which allows rapid identification, notification, and transfer of stroke patients to the emergency units. Technological advances in stroke diagnosis, and the development of effective therapeutic measures, such as thrombolytics, require a coordinated multidisciplinary approach. Treating patients in Stroke Units is the most effective and efficient approach in acute ischemic or hemorrhagic stroke management. In coming years research advances will provide new and better strategies in acute stroke treatment.

[Emergencies in neuromuscular pathology]. / Urgencias en patología neuromuscular.

Acute muscle weakness (AMW) is the predominant symptom of neuromuscular emergencies, especially if it affects the respiratory or oropharyngeal musculature . AMW is a multi-etiological syndrome, with different lesion levels in the motor unit. Within the broad group of neuromuscular diseases, those that most frequently provoke AMW and respiratory failure are Guillain-Barré syndrome (GBS) and myasthenia gravis (MG). GBS is the most frequent cause of acute flaccid paralysis; it can cause respiratory failure in a third of cases, making mechanical ventilation necessary. Accurate diagnosis of this syndrome enables immunomodulatory treatment to be started, which has been shown to modify the course of the disease. Besides, clinical evaluation of the patients and knowledge of the simple tests of neurophysiology and respiratory function will guide the decision on mechanical ventilation, avoiding emergency intubation. The most frequent emergency caused by MG is myasthenic crisis, defined by the deterioration in the bulbar function with acute respiratory insufficiency and risk of respiratory stoppage. This occurs in 15-20% of myasthenic patients and can be triggered by numerous factors. Besides early identification of the crisis, it is important to suppress the triggering factors and to provide measure of ventilatory support. Amongst the pharmacological measures, the most useful instruments at present are plasmapheresis and intravenous immunoglobulins; these treatments do not cancel the need for intensive vigilance and of checking for imminent signs of respiratory failure that will involve invasive or non-invasive ventilatory support.

[Acute symptomatic epilepsies]. / Epilepsias agudas sintomáticas.

OBJECTIVES: To review the differentiating characteristics of symptomatic acute epilepsies, epidemiology, aetiology and controversies over treatment, and describe our experience with symptomatic acute epilepsy in cerebrovascular disorders. DEVELOPMENT AND CONCLUSIONS: The so-called symptomatic acute epilepsies show clearly differentiated characteristics with regard to true epileptic disorders: 1. A clearly identified causal association; 2. Generally tend not to recur; 3. Usually long-term anti-epileptic treatment is not necessary. Therefore the most suitable term for them is symptomatic acute seizures. They make up a large proportion of all newly-diagnosed epilepsies around 40%. The highest incidence occurs during the first year of life (probably because of the high incidence of seizures due to encephalopathies, metabolic disorders and infections) and in elderly patients (especially in relations to cerebrovascular disorders). The commonest causes are: cerebrovascular disorders, head injury, infections of the central nervous system, alcohol and drugs. The risk of subsequent epilepsy is increased in a subgroup of these patients, especially in cases with associated cerebrovascular disorders, head injuries and central nervous system infection. Long-term preventive treatment is rarely indicated in these patients.

[Acute transverse myelitis secondary to hepatitis B vaccination]. / Mielitis transversa aguda secundaria a la vacunación de la hepatitis B.

INTRODUCTION: Acute transverse myelitis is an inflammatory disorder. The pathogenesis is unclear, but the probable mechanism involves an autoimmune phenomenon. Possible causes included multiple sclerosis and parainfectious and postvaccinal events. Myelitis has rarely been reported secondary to vaccinations including hepatitis B. We present a case of acute myelitis, which seems secondary to the administration of the hepatitis B vaccine. CLINICAL CASE: A 15-years-old female presented with progressive numbness of the right arm and leg, with right leg weakness. Symptom began one week after receiving the first dose of the hepatitis B vaccine. Spinal cord magnetic resonance (MR) revealed a diffuse increased signal extending from C6 to D2. Cerebral MR and cerebrospinal fluid were normal. She was treated with high doses of methylprednisolone with a complete recovery of neurological functional. Repeat medullar cord MR was normal. There was no relapse during a four years follow up. CONCLUSIONS: Potential causal relationship between vaccination against hepatitis B and multiple sclerosis was brought to the attention and to public debate. However, no conclusive association could be made between vaccination and demyelination. In the clinical setting, the distinction between a first episode of multiple sclerosis or postvaccinal myelitis depends upon subsequent course.

[Thalamic hematomas: etiology, clinical findings and prognosis]. / Hematomas talámicos: etiología, clínica y pronóstico.

INTRODUCTION: The appearance of new neuroimaging techniques has permitted study of large series of thalamic hematomas, amongst which differences have been observed according to the size and arterial territory affected. OBJECTIVE: To determine the existence or not of differences between thalamic hematomas, according to their arterial territory and size, with regard to the aetiology, clinical findings and short term prognosis. PATIENTS AND METHODS: A retrospective study was made of 60 patients admitted to hospital with the diagnosis of thalamic hematoma (between January 1987 and July 1997) classified according to localization as: anterior, dorsal, posterolateral, posteromedial and global, and according to size as: large (> 20 mm), and small (< 20 mm) in which we analyzed the aetiology, clinical signs and prognosis up to discharge from hospital. RESULTS: The commonest aetiology was found to be arterial hypertension (60%); with regard to the arterial territory involved we have observed different clinical and prognostic features but the number of patients in each group was too small to permit statistical analysis. Significant differences were shown with regard to the size of the hematoma: large hematomas more often extended to nearby structures, caused hydrocephalia, were associated with alteration in the level of consciousness, severe motor deficit, oculomotor changes, alteration in superior functions and hemianopsia, and had worse prognosis and increased mortality and dependence in everyday activity than small hematomas. CONCLUSION: According to their size, thalamic hematomas show statistically significant clinical and prognostic differences.

[Miller-Fisher syndrome associated with toxoplasmosis]. / Síndrome de Miller-Fisher asociado a infección por toxoplasma.

We report on an immunocompetent patient who developed acquired toxoplasmosis and Miller-Fisher syndrome with central and peripheral neural involvement. We suggest the possible relationship between acquired toxoplasmosis and Miller-Fisher syndrome, even though we cannot exclude a mere coincidence. To our knowledge such an association has not been reported.

[Reading-induced epilepsy: three new cases]. / Epilepsia de la lectura: presentación de tres casos.

INTRODUCTION: Primary epilepsy of reading is a rare syndrome in which patients present with mandibular myoclonia when reading texts. Seizures are also frequently provoked by other stimuli. Occasionally they may be followed by generalized tonic-clonic seizures. CLINICAL CASES: We present the clinical features and electroencephalographs of three patients with epilepsy of reading, one of them also had seizures when playing chess and after doing arithmetic and the third after reading music. Treatment with valproic acid and clonazepam completely controlled the seizures in all three patients. In two cases we saw epileptiform activity on EEG whilst they were reading, although the basal EEG was normal. CONCLUSIONS: We believe that epilepsy of reading is under-diagnosed and emphasize the importance of careful questioning of epileptic patients as to factors which may precipitate the seizures. In view of the social problems which may arise, early recognition of the syndrome is important for the patient.

[Epileptic seizures during sleep]. / Crisis epilépticas durante el sueño.

UNLABELLED: Introduction. Epileptic crises presenting exclusively during sleep are rare and pose more problems of diagnosis than do crises of diurnal presentation. PATIENTS: We present the clinical and electroencephalographic data of 20 patients with exclusively sleep-induced epileptic crises, evaluating not only the type of crises and the diagnosis of the particular syndrome, but also the response to treatment and prognosis. The patients studied were over 17 years old, had only nocturnal crises and were followed up for a period of three years. An EEG done during sleep and cerebral CT scan were available in all cases and a cranial MR was available in two cases. Diagnosis was made using clinical data and the sleep EEG. RESULTS: The majority (40%) had temporal lobe epilepsy. In two patients (10%) occipital paroxysms were found. In all cases both the neurological examination and the mental state were normal. The sleep EEG was pathological in 75% of the cases. Only three of the twenty patients had changes on the CT scan. Monotherapeutic antiepileptic treatment completely controlled the crises in 15 patients. CONCLUSIONS: We wish to emphasize the usefulness and importance of the sleep EEG in defining the syndrome affecting these patients, the diagnostic difficulties in sleep epilepsy, the good response to antiepileptic treatment and the high incidence of recurrence if antiepileptic treatment is no longer given. In view of all these factors we believe that sleep epilepsy may be considered to be a syndrome of epilepsy.

[Neuropathic beriberi as a complication of surgery of morbid obesity]. / Beriberi neuropático como aplicación de la cirugía de la obesidad mórbida.

We describe a women of 22 years of age who had had a vertical gastroplasty (as treatment for morbid obesity). She was admitted to hospital with a 4 week history of nausea and vomiting of food. Treatment with intravenous dextrose, without vitamin supplements was started. One week later she complained of diplopia, paresthesia and weakness of the limbs. All investigations proved to be normal. A deficiency state was suspected, probably Wernicke's encephalopathy, although no alterations were seen in her mental state. We started treatment with high doses of parenteral thiamine, other vitamins and a suitable diet. The treatment was followed by complete recovery. Few neurological complications have been described in association with vertical gastroplasty. The commonest are polyneuropathies. The probable deficiency origin of these is considered. We emphasise the importance of vitamin supplements following the surgical treatment of morbid obesity to avoid the development of deficiency states. Wernicke's encephalopathy is due to thiamine deficiency. It may be associated with any type of malnutrition, not only with chronic alcoholism. The full clinical triad which is diagnostic of this condition is only present in one third of the cases. When the condition is suspected on clinical grounds treatment should be started early to avoid the occurrence of irreversible secuelae.