The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.

INTRODUCTION/AIMS: Limb-girdle muscular dystrophy R1 (LGMDR1) calpain 3-related usually presents as a recessively transmitted weakness of proximal limb-girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4). The mechanism underlying this difference in transmission patterns has not yet been elucidated. Camptocormia, progressive limb weakness, myalgia, back pain, and increased CK levels are common clinical features associated with dominant forms. The p.Lys254del pathogenic variant was associated with camptocormia in two LGMDD4 families. This study aimed to present carriers found in recessively transmitted LGMDR1 families bearing the p.Lys254del variant that do not show muscle weakness. METHODS: DNA sequencing was performed on exon 5 of CAPN3 in family members to establish the carrier status of the pathogenic variant. They were evaluated clinically and MRI was performed when available. RESULTS: Two families presented with the p.Lys254del pathogenic variant in a homozygous or compound heterozygous state. Family members carrying only the pathogenic variant in the heterozygous state did not demonstrate the myopathic characteristics described in dominant patients. Camptocormia and other severe clinical symptoms were not observed. DISCUSSION: We conclude that the p.Lys254del pathogenic variant per se cannot be solely responsible for camptocormia in dominant patients. Other undisclosed factors may regulate the phenotype associated with the dominant inheritance pattern in CAPN3 pathogenic variant carriers.

Electrodiagnostic subtyping in Guillain-Barré syndrome patients in the International Guillain-Barré Outcome Study.

BACKGROUND AND PURPOSE: Various electrodiagnostic criteria have been developed in Guillain-Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria. METHODS: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally. RESULTS: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%. CONCLUSIONS AND DISCUSSION: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted.

Brain metastases and lung cancer: molecular biology, natural history, prediction of response and efficacy of immunotherapy.

Brain metastases stemming from lung cancer represent a common and challenging complication that significantly impacts patients' overall health. The migration of these cancerous cells from lung lesions to the central nervous system is facilitated by diverse molecular changes and a specific environment that supports their affinity for neural tissues. The advent of immunotherapy and its varied combinations in non-small cell lung cancer has notably improved patient survival rates, even in cases involving brain metastases. These therapies exhibit enhanced penetration into the central nervous system compared to traditional chemotherapy. This review outlines the molecular mechanisms underlying the development of brain metastases in lung cancer and explores the efficacy of novel immunotherapy approaches and their combinations.

Reposicionamiento terapéutico y enfermedad de Steinert / No disponible

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Repuesta: Hallazgos oculares en pacientes afectados por distrofia miotónica / Reply: Ocular findings in patients affected by myotonic dystrophy

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La distrofia miotónica de Steinert en urgencias / Steinert myotonic dystrophy in the emergency department

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

Antecedentes y objetivos: La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1. Material y métodos: Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura. Recomendaciones: Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares. Conclusión: La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares

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

Parámetros de normalidad de la respuesta simpaticocutánea en 100 sujetos normales / Sympathetic skin response: reference data for 100 normal subjects

Introducción. La respuesta simpaticocutánea (RSC) se ha utilizado desde su descripción en 1984 para investigar la integridad del sistema nervioso vegetativo simpático en enfermedades del sistema nervioso periférico y central. Objetivo. Presentar un protocolo de exploración neurofisiológica de la RSC y el análisis de sus parámetros de normalidad en una población de sujetos asintomáticos. Sujetos y métodos. Se han valorado las características de 200 RSC correspondientes a 100 sujetos voluntarios normales convenientemente informados –latencia, amplitud (p-p) y persistencia– para cuantificar la habituación al estímulo. El sujeto se coloca en decúbito supino y relajado, con ausencia de estímulos auditivos y luminosos durante varios minutos. Se utilizan electrodos cutáneos para la estimulación y el registro; este último en la palma (activo) y el dorso (referencia) de ambas manos (en el segundo espacio interóseo). Se estimula en la zona glabelar a intervalos irregulares. Resultados. Se han estudiado 100 sujetos normales con edades entre 12 y 89 años (media: 45,6 años); 21 hombres y 79 mujeres. Los parámetros valorados en las 200 RSC son: latencia, 1,42 ± 0,03 s; amplitud, 2,44 ± 1,84 mV, y persistencia, 67,2 ± 19,8%. Conclusiones. La RSC es un test objetivo, reproducible, medible, sencillo de realizar y no doloroso para el paciente, y que sirve como base para el estudio posterior de otras enfermedades en las que existe una disfunción del sistema nervioso vegetativo simpático, aunque no claramente definida, cuantificada ni evaluada en algunas de ellas (AU)

Introduction. The sympathetic skin response (SSR) has been used since its description in 1984 to test the integrity of the sympathetic autonomic nervous system to investigate peripheral and central nervous system diseases. Aim. To present a neurophysiological examination protocol for SSR and the normal parameters for a population of 100 normal subjects. Subjects and methods. To evaluate the characteristics of 200 SSR tests for 100 normal subjects adequately informed: latency, amplitude (peak to peak) and persistence. The subject lays supine and relaxed, with no visual nor auditory stimuli for several minutes. Cutaneous electrodes are used for stimulation and recording, the latter in palm (active) and back (reference) in both hands simultaneously (second interosseous space). The stimulus is applied in the glabela at irregular intervals. Results. We studied 100 normal subjects aged 12 to 89 years (mean: 45.6), 21 men and 79 women. The parameters measured in the 200 SSR are: latency, 1.42 ± 0.03 s; amplitude, 2.44 ± 1.84 mV; persistence, 67.2 ± 19.8%. Conclusions. SSR is an objective, reproducible, measurable, easy to perform and unpainful for the patient and serves as a basis for further study of other diseases in which there is a dysfunction of the sympathetic autonomic nervous system (AU)

Un hueso supernumerario / A supernumerary bone

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Utilidad del electromiograma en el diagnóstico de las miopatías inflamatorias / Use of electromyography in the diagnosis of inflammatory myopathies

Las miopatías inflamatorias son un grupo heterogéneo de miopatías en las que existe inflamación en la biopsia. En su evaluación es esencial el uso de técnicas neurofisiológicas que permiten obtener información sobre la naturaleza del proceso. Este trabajo revisa el patrón electromiográfico característico de las miopatías inflamatorias, su valor diagnóstico, las limitaciones y algunas pistas sobre la interpretación de los resultados de las técnicas neurofisiológicas en la evaluación de las miopatías inflamatorias (AU)

Inflammatory myopathies are a heterogeneous group of myopathies in which there is biopsy-evident inflammation. In its evaluation it is essential to use neurophysiological techniques that provide information on the nature of the process. This paper reviews the electromigram pattern characteristic of inflammatory myopathies, its diagnostic value, limitations, and some clues on the interpretation of the results of neurophysiological techniques in the assessment of inflammatory myopathies (AU)

Afectación respiratoria en la esclerosis lateral amiotrófica: indicios electromiográficos / Respiratory compromise in amyotrophic lateral sclerosis: electromyographic evidence

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Miopatías producidas por tóxicos industriales, animales y vegetales / Toxic myopathies caused by industrial, animal and vegetal toxins

Introducción. Las miopatías producidas por toxinas industriales y biológicas son entidades poco frecuentes, pero de gran interés, ya que su correcta identificación puede permitir retirar el tóxico y obtener la curación o evitar lesiones irreversibles. Objetivo. Describir las miopatías tóxicas más frecuentes. Desarrollo. Se discute la epidemiología, manifestaciones clínicas y manejo clínico de las miopatías tóxicas. Conclusiones. Las miopatías tóxicas son poco frecuentes y difíciles de diagnosticar. Existe poca bibliografía al respecto. Es necesario estar familiarizado con ellas, puesto que un diagnóstico rápido permite la curación o evitar secuelas importantes (AU)

Introduction. Myopathies caused by industrial and biological toxins are uncommon but quite interesting, because its prompt recognition may reduce their damaging effects or prevent a fatal outcome. Aim. To describe the most frequent toxic myopathies. Development. Toxic myopathies epidemiology, clinical presentations and clinical management are discussed. Conclusions. Toxic myopathies are uncommon and difficult to diagnose. They have been insufficiently studied. Knowledge of these myopathies is essential because a prompt diagnosis allows for recovery (AU)

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

Introducción. El reflejo de Hoffmann o reflejo H es un equivalente eléctrico del reflejo miotático. En el sujeto adulto está presente al estimular el nervio tibial posterior y el nervio mediano. Es útil como complemento en la exploración neurológica de éstos; evalúa los arcos reflejos correspondientes y las vías que interactúan en ellos. Sujetos y métodos. Se han estudiado 248 reflejos H que estimulan el nervio tibial posterior en 124 sujetos normales. Resultados. Los valores de latencia obtenidos son: mínimo de 23,6 ms; máximo de 29,8 ms; media de 27,6 ± 1,41 ms. Conclusión. Se expone la técnica que hay que seguir para obtener el reflejo H y se valora además la necesidad de realizar estudios de normalidad en los valores de conducción en el propio laboratorio (AU)

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 (AU)

Miopatía por ezetimiba reversible tras suspensión del tratamiento / Reversible myopathy due to ezetimiba

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