Median nerve impairment in leprosy: how does it differ from the classic carpal tunnel syndrome?

Background:  Carpal tunnel syndrome (CTS) has already been described as a possible form of neural leprosy presentation. However, the median nerve can be involved in this neuropathy in proximal segments and, sometimes, with an asymmetric impairment of the digital branches.

Objective:  To detail the pattern of median nerve impairment through nerve conduction study (NCS) and ultrasound evaluation.

Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit.

Background: Hopkins syndrome is a rare polio-like syndrome, with an incompletely understood pathophysiology, that affects children after asthma crisis.

Methods: A 10-year-old girl was admitted to the intensive care unit following a severe asthma attack, requiring mechanical ventilation for a period of five days. After regaining consciousness, the patient exhibited development of asymmetric flaccid paraparesis.

Monoclonal gammopathy-associated peripheral neuropathies: Uncovering pearls and challenges.

Monoclonal gammopathy-related peripheral neuropathies encompass a spectrum of clinical presentations in which the monoclonal protein directly damages the tissues, including the peripheral nervous system. Given the prevalence of both peripheral neuropathy and monoclonal gammopathy in the general population, these conditions may overlap in clinical practice, posing a challenge for clinicians in determining causality. Therefore, a comprehensive understanding of primary clinical syndromes and their neurophysiological patterns is of great importance for accurate differential diagnoses and effective treatment strategies.

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.

Background And Purpose: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.

Method: Case report.

Vibration perception among children and adolescents with Charcot-Marie-tooth disease and implications for foot posture.

Background: Alterations in vibration perception among children and adolescents with Charcot-Marie-Tooth disease might explain observed changes in foot posture. Therefore, this cross-sectional study compared the vibration perception of the lower limbs in youths with and without Charcot-Marie-Tooth disease and verified the cut-off value of the distal vibration perception for the Charcot-Marie-Tooth group. In addition, associations between dynamic plantar pressure, vibration perception and isometric muscle strength were investigated.

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology.

The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients.

Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.

Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. Since the identification of gene duplication on chromosome 17 by Vance et al.

Effectiveness of exercise therapy for individuals diagnosed with Charcot-Marie-Tooth disease: A systematic review of randomized clinical trials.

Background And Aims: Effective treatments for Charcot-Marie-Tooth (CMT) disease lack. Current treatments, such as ankle and foot surgery/orthoses, analgesics, and physiotherapy, focus on relieving the symptoms. Few randomized controlled trials (RCTs) investigated the effectiveness of exercise in patients with CMT, and a systematic review summarizing the effects of such treatments is outdated.

Silent peripheral neuropathy determined by high-resolution ultrasound among contacts of patients with Hansen's disease.

Introduction: Hansen's disease (HD) primarily infects peripheral nerves, with patients without HD being free of peripheral nerve damage. Household contacts (HHCs) of patients with HD are at a 5-10 times higher risk of HD than the general population. Neural thickening is one of the three cardinal signs that define a case of HD according to WHO guidelines, exclusively considering palpation examination that is subjective and may not detect the condition in the earliest cases even when performed by well-trained professionals.

Amyotrophic Lateral Sclerosis: An Analysis of the Electromyographic Fatigue of the Masticatory Muscles.

Amyotrophic lateral sclerosis is a chronic degenerative disease that affects motor neurons, thereby promoting functional changes in the human body. The study evaluated the electromyographic fatigue threshold of the masseter and temporal muscles of subjects with amyotrophic lateral sclerosis. A total of eighteen subjects were divided into two groups: amyotrophic lateral sclerosis (n=9) and disease-free control (n=9).

ALS due to a novel TBK1 mutation in Brazil.

TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset).

DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?

Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients.

Innovative tracking, active search and follow-up strategies for new leprosy cases in the female prison population.

Background: Regarding the leprosy transmission through the upper airways, overcrowded locations such as prisons can become a risk to get sick. Like the leprosy hidden endemic demonstrated in male prison population, being interesting to assess the leprosy scene also among confined women.

Methods: A prospective descriptive study conducted at Female Penitentiary, Brazil.

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated.

Objective: To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and identify potential biomarkers.

Methods: We evaluated 29 patients with ARSACS, 66 with spinocerebellar ataxia (SCA), 38 with autosomal recessive cerebellar ataxia (ATX), 22 with hereditary spastic paraplegia (SPG), 21 cases of papilledema, and 20 healthy controls (total n = 196 subjects).

Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease.

Background: The dynamic plantar pressure patterns of children and adolescents with Charcot-Marie-Tooth (CMT) disease and its relationship to musculoskeletal alterations may help to understand the natural history of the disease and improve therapeutic interventions.

Research Question: The study compared dynamic plantar pressure patterns in children and adolescents with and without CMT. It also tested the associations between isometric muscle strength (IMS), passive range of motion (ROM), foot posture and dynamic plantar pressure patterns in CMT.

Huntington's disease-like 2: a phenocopy not to miss.

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome.

Which Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?

There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis.

Objective And Methods: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles.

Ipsilateral proprioceptive neuromuscular facilitation patterns improve overflow and reduce foot drop in patients with demyelinating polyneuropathy.

The purpose of this study was to evaluate the response of the tibialis anterior muscle (TAm) using surface electromyography in patients with Charcot-Marie-Tooth disease (CMT-IA), after ipsilateral proprioceptive neuromuscular patterns (PNF). Thirteen CMT-IA patients (both sexes) were treated twice a week, for 5 weeks, with bilateral PNF pattern, four times per treatment. During the execution of the patterns, we recorded the bilateral activation of the TAm in root mean square (RMS).

Alterations in the stomatognathic system due to amyotrophic lateral sclerosis.

Objectives: To compare the molar bite force, electromyographic activity, chewing efficiency and thickness of the masseter and temporalis muscles in individuals with amyotrophic lateral sclerosis (ALS) and healthy individuals.

Material And Methods: Thirty individuals enrolled in the study were divided into the study group (with ALS, n=15) and control group (healthy individuals, n=15). Data regarding molar bite force (right and left), electromyographic activity (mandibular rest, right and left laterality, protrusion, and maximum voluntary contraction), chewing efficiency (habitual and non-habitual), and masticatory muscle thickness (rest and maximum voluntary contraction) were tabulated and subjected to statistical analysis (Student's t-test, p≤0.