Prevalence, Incidence, and Clinical-Epidemiological Characterization of Amyotrophic Lateral Sclerosis in Antioquia: Colombia.

INTRODUCTION: The prevalence and incidence of amyotrophic lateral sclerosis (ALS) is not fully established, and this varies depending on the studied population. OBJECTIVE: To estimate the prevalence/incidence of ALS patients in Antioquia-Colombia. METHODOLOGY: Observational/descriptive study by reviewing clinical records from 2010 to 2014. Cases with possible, probable and definite ALS were included. To estimate the prevalence/incidence, capture-recapture method was used. RESULTS: Point prevalence in December 2014 was 4.9/100,000 (95% CI 2.0-7.8), and the incidence was 1.4/100,000/year (95% CI 0.5-2.2). The median survival was 4 years. Spinal-onset was observed in 62.4% of the included patients. CONCLUSION: Prevalence, incidence and clinical presentation of ALS in Antioquia are similar to most studies reported worldwide. However, prevalence in Antioquia seems to be slightly higher than in other studies from Latin -American countries. This may derive from the inclusion criteria and case detection methodology adopted, but sociodemographic and genetic factors should be considered.

Prevalence of Dystonia in Antioquia, Colombia.

BACKGROUND: There are few published epidemiological studies concerning dystonia. Its true prevalence has been difficult to establish. There is no data published in Latin America on this matter. METHODS: In this study the prevalence of dystonias in the Department of Antioquia (Colombia) was estimated using a capture-recapture methodology with log-linear modeling, including cases in 3 centers for neurological referrals that cover the Department of Antioquia from 2007 to 2012. RESULTS: The overall prevalence was 712 per 1,000,000 (95% CI 487-937). Of the total of 874 patients, 79% had primary dystonias, and 75.5% had focal dystonias. The delay in diagnosis was longer for primary dystonias, with a median of 1 year. CONCLUSION: We found a high prevalence of dystonias in Antioquia. The frequency of the different types of dystonias, as well as the demographic characteristics of our patients, is similar to data from other populations of the world.

Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia / Análisis de mutaciones en los genes SOD1 y C9orf72 en pacientes con esclerosis lateral amiotrófica, Antioquia, Colombia

Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colombia. Despite its unknown etiopathogenesis, more genetic risk factors possibly involved in the development of this disease are constantly found. Objetives: To evaluate G93A and D90A mutations in SOD1 gene and a short tandem repeat in C9orf72 within a cohort of amyotrophic lateral sclerosis patients from Antioquia, Colombia. Materials y methods: Thirty-four patients previously diagnosed with amyotrophic lateral sclerosis were included in the study. Peripheral blood samples were used for DNA extraction and genotyping. Results: No mutations were found in SOD1 (G93A and D90A) in any of the patients, while C9orf72 exhibited an allele with a statistically significant high prevalence in the study sample (8 hexanucleotide repeats of CAGCAG). Conclusions: These results suggest an association between this short tandem repeat (STR) in C9orf72 and the presence of amyotrophic lateral sclerosis in the studied population. However, this association should be established in a larger sample size and with controls from the same population. In addition, there also seems to be a genetic anticipation effect for the disease regarding this locus, since patients with this genotype present an earlier onset.

Introducción. La esclerosis lateral amiotrófica es una enfermedad neurodegenerativa con un posible origen multifactorial, caracterizado por una degeneración progresiva de las neuronas motoras. Hay una gran prevalencia relativa de esta enfermedad en Antioquia; sin embargo, no hay publicaciones de estudios genéticos en Colombia. A pesar de su etiopatogénesis desconocida, hay varios factores de riesgo genético que se encuentran constantemente en el desarrollo de esta enfermedad. Objetivo. Evaluar las mutaciones G93A y D90A del gen SOD1 y una repetición corta en tándem (Short Tandem Repeat, STR) en el locus C9orf72, en una cohorte de pacientes con esclerosis lateral amiotrófica en Antioquia, Colombia. Materiales y métodos. Se incluyeron 34 pacientes previamente diagnosticados en el estudio. Una muestra de sangre periférica se usó para extraer el ADN y, posteriormente, genotipificarlo. Resultados. No se encontraron mutaciones en el gen SOD1 (G93A y D90A), mientras que el C9orf72 exhibe un alelo con una significativa prevalencia en los pacientes del estudio (8 repeticiones del hexanucleótido G4C2). Conclusiones. Se sugiere una asociación entre la repetición en tándem en C9orf72 y la presencia de la esclerosis lateral amiotrófica en la población estudiada. Sin embargo, se sugiere hacer estudios adicionales e incluir un grupo control de la misma población. Además, se detecta un fenómeno de anticipación genética de la enfermedad, dado que los pacientes con el alelo de 8 repeticiones en C9orf72 presentan una edad temprana de aparición de los síntomas.

Prescription patterns of riluzole in a population of patients with motor neuron disease / Patrón de prescripción de riluzol en una población de pacientes con enfermedad de neurona motora

SUMMARY OBJECTIVE: To determine the prescription pattern of riluzol and the variables associated to its use in a population of patients with motor neuron disease affiliated to the Colombian General Social Security Health System (SGSSS) in 2017. METHOD: Descriptive cross-sectional study. Through a systemized data base of approximately 3,5 million members to the Colombian SGSSS; patients who had been given riluzol uninterruptedly between April 1 and June 30 of 2017, were selected. Sociodemographic, pharmacological variables and comorbidities were analyzed. Defined daily dose (DDD) was estimated for 1.000 inhabitants/day and its costs. RESULTS: There were found 81 patients with motor neuron disease receiving riluzol, with an average age of 60,8+12,6 years. 48.1% were male. The prevalence of motor neuron disease was 29/100.000 individuals. Patients received riluzol in 50 mg tablets and the doses was estimated in 0,016 DDD for 1.000 inhabitants/day 63% were receiving medicines that reflect comorbidity or could interact with riluzol. The total cost of riluzol dispensed in 2017 was USD 85.348 and per prescribed daily dose on average was USD 2,3. CONCLUSIONS: The use of riluzol in patients with motor neuron disease in Colombia was carried by the recommended doses by the WHO and with a direct cost lower than reported in other countries. Studies are recommended in order to determine the effectiveness of riluzol in real-life conditions.

RESUMEN OBJETIVOS: Determinar el patrón de prescripción de riluzol y las variables asociadas a su utilización en una población de pacientes con enfermedad de neurona motora afiliados al Sistema General de Seguridad Social en Salud de Colombia (SGSSS) en 2017. METODOLOGÍA: Estudio descriptivo de corte transversal. Mediante una base de datos sistematizada de aproximadamente 3,5 millones de afiliados al SGSSS de Colombia; se seleccionaron pacientes a quienes se les haya dispensado riluzol de manera ininterrumpida entre 1 abril y 30 junio de 2017. Se analizaron variables socio-demográficas, farmacológicas y las comorbilidades. Se estimaron la dosis diaria definida (DDD) por 1.000 habitantes/día y los costos. RESULTADOS: Se encontraron 81 pacientes con enfermedad de neurona motora recibiendo riluzol, con edad promedio de 60,8+12,6 años. El 48,1% eran hombres. La prevalencia de enfermedad de neurona motora fue 2,29/100.000 personas. Los pacientes recibieron riluzol en tabletas de 50 mg y se estimó la dosis en 0,016 DDD por 1.000 habitantes/día. El 63% recibían medicamentos que reflejan comorbilidad o pudieran tener interacción con riluzol. El costo total del riluzol dispensado en 2017 fue USD 85.348 y por dosis diaria prescrita en promedio fue USD 2,3. CONCLUSIONES: El uso de riluzol en pacientes con enfermedad de neurona motora en Colombia se realizó a las dosis recomendadas por la OMS y con un costo directo menor al reportado en otros países. Se recomienda realizar estudios que permitan determinar la efectividad del riluzol en condiciones de la vida real.

Esclerosis lateral amiotrófica: actualización / La esclerose lateral amiotrófica: atualização / Amyotrophic lateral sclerosis: update

La esclerosis lateral amiotrófica es una enfermedad neurodegenerativa que tiene consecuencias devastadoras para el paciente y su familia. Aún no existe claridad sobre su etiología, cerca del 10 % de los pacientes tienen patrón hereditario. La prevalencia mundial varía entre 2 y 11 casos por 100.000 habitantes; el rango de edad de presentación es de 58 a 63 años para los casos esporádicos, y de 47 a 52 años para los familiares, con una ligera predilección por el sexo masculino. Las manifestaciones clínicas incluyen signos de daño de las neuronas motorassuperior e inferior tanto en las extremidades como en la musculatura bulbar, y en algunos pacientes hay deterioro cognitivo frontotemporal. El diagnóstico continúa siendo fundamentalmente clínico, apoyado por estudios neurofisiológicos; de estos, la electromiografía de aguja ha sido el más útil para el diagnóstico temprano. No existe tratamiento curativo y solo un medicamento, el riluzol, ha demostrado efectividad para retrasar el uso de ventilación mecánica y prolongar levemente la supervivencia. Por tanto, el tratamiento de estos pacientes se basa en medidas de soporte, especialmente en los aspectos de nutrición y ventilación, además de controlar los síntomas motores y no motores de la enfermedad...

Amyotrophic lateral sclerosis is a neurodegenerative disease with devastating consequences for the patient and his/her family. Its etiology is still not clear. In about 10 % of the patients there is a hereditary pattern of the disease. Worldwide, prevalence ranges from 2 to 11 cases per 100,000 people. Age of presentation varies from 58 to 63 years for sporadic cases, and from 47 to 52 years for the familial ones. Concerning gender, there is a slight preference for males. Clinical manifestations include signs of upper and lower motor neurons, damage in limbs and bulbar muscles, and, in some patients, frontotemporal cognitive dysfunction. Diagnosis is essentially clinical supported by neurophysiologicalstudies, such as needle electromyography, which is the most important test for early diagnosis. There is no cure, but riluzol has proven to delay the use of mechanical ventilation and to slightly prolong survival. Consequently, management is based on support measures, such as those related to nutrition and ventilatory function, in addition to control of the motor and non-motor symptoms of the disease...

La esclerose lateral amiotrófica é uma doença neurodegenerativa que tem consequências devastadoras para o doente e sua família. Ainda não existe claridade sobre sua etiologia, cerca de 10 % dos doentes tem padrão hereditário. A prevalência mundial variaentre 2 e 11 casos por 100.000 habitantes; a faixa de idade de apresentação é de 58 a 63 anos para os casos esporádicos, e de 47 a 52 anos para os familiares, com uma ligeira predileção pelo sexo masculino. As manifestações clínicas incluem signos de dano dos neurônios motores superior e inferior tanto nas extremidades como na musculatura bulbar, e em alguns doentes há deterioro cognitivo fronto-temporal. Odiagnóstico continua sendo fundamentalmente clínico, apoiado por estudos neurofisiológicos; destes, a eletromiografia de agulha há sido o mais útil para o diagnóstico precoce. Não existe tratamento curativo e só um medicamento, o Riluzol, há demostradoefeito para retrasar o uso de ventilação mecânica e prolongar levemente a supervivência. Por tanto, o tratamento destes doentes se baseia em medidas de suporte, especialmente nos aspectos de nutrição e ventilação, ademais de controlar os síntomas motores e não motores da doença...