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1.
Medicine (Baltimore) ; 99(5): e18975, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32000428

RESUMO

INTRODUCTION: Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characterize the prevalence of SMA carrier among people in China. So, we conducted a systematic review and meta-analysis to obtain a reliable estimation of the prevalence of SMA carrier to characterize its epidemiology for the first time. METHODS: We systematically searched for articles in kinds of important electronic databases, including PubMed, Embase, Wanfang Database and China National Knowledge Infrastructure (CNKI) to identify all relevant literatures about carrier rates of SMA in China. The prevalence was performed by forest plot choosing random effect models. The publication bias was evaluated by means of funnel plots and Egger test. The sensitivity analysis was carried out by the method of omitting any literature at a time. Combined with the results of subgroup analysis, the source of heterogeneity was also discussed absolutely. RESULTS: A total of 10 studies published between 2005 and 2016 were included in our analysis at last. The sample size ranged from 264 to 107,611 in included studies. The random effect models of meta-analysis showed that the overall carrier rate of SMA was 2.0% (95% confidence interval [CI], 1.7%-2.3%) in a heterogeneous set of studies (I = 64%). There was a gradual rise trend observed in the SMA carrier rate during the study period. The funnel plots and Egger test (Coef = 0.02, t = -0.45, P = .667 > .05) showed no obvious potential risk of publication bias. CONCLUSION: The overall carrying rate of SMA was high as 2.0% and may be on a slow upward trend. So it was recommended that the countries should take active and effective measures to roll out routine prenatal screening and health genetic counseling for SMA as early as possible. What is more, further studies also need to be conducted to explore the etiology and epidemic factors of SMA to better control the risk of this common birth defect.


Assuntos
Heterozigoto , Atrofia Muscular Espinal/epidemiologia , Atrofia Muscular Espinal/genética , China/epidemiologia , Humanos , Prevalência
2.
Rev Med Suisse ; 16(679): 248-249, 2020 Jan 29.
Artigo em Francês | MEDLINE | ID: mdl-31995327
3.
Expert Opin Pharmacother ; 21(3): 307-315, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31973611

RESUMO

Introduction: Spinal muscular atrophy (SMA) is one of the most common inherited neuromuscular disorders. It causes progressive muscle weakness and results in significant disability. Until recently, there were no drugs available for the treatment of SMA. Several phase 1-3 studies, including three double-blind randomized placebo-controlled studies have demonstrated the efficacy of disease-modifying approaches including gene replacement therapy, antisense oligonucleotides, and splicing modifiers.Areas covered: This article covers the publically available data on therapeutic strategies that address the underlying cause of SMA and clinical data available on approved treatments and drugs in the pipeline.Expert opinion: The newer therapeutic options in SMA have a good safety profile and deliver a therapeutic benefit in most patients. It is essential that the recommended standards of care are delivered along with the drugs for the best outcomes. No biomarkers to distinguish responders from non-responders are available; it is important that biomarkers be identified. Early treatment is essential for the maximum efficacy of the newly available treatments.


Assuntos
Terapia Genética/métodos , Atrofia Muscular Espinal/terapia , Oligonucleotídeos Antissenso/uso terapêutico , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
4.
Rev Med Suisse ; 16(678): 154-155, 2020 Jan 22.
Artigo em Francês | MEDLINE | ID: mdl-31967762
5.
Brain Nerve ; 72(1): 13-22, 2020 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-31907329

RESUMO

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive muscle wasting and weakness. Riluzole was the sole drug available for treating ALS until 2015, when edaravone was approved as a new anti-ALS drug. Recent discoveries of the disease-causal genes and proteins, as well as the rapid advancement of induced pluripotent stem (iPS) cell manipulations, drug deliveries, and molecular modifications have provided diverse and promising drug candidates. In particular, antisense-oligonucleotide therapy appears to significantly prevent disease progression when introduced early. Moreover, the in vitro modeling of ALS using patients' own iPS cells enables effective screening of approved drugs. Drug repositioning is a robust short-cut to bedside use in patients with ALS, due to the availability of data for safety concerns. Currently, five investigator-initiated drug trials are underway in Japan. These include trials of hepatocyte growth factor, perampanel, ultra-high-dose methylcobalamin, ropinirole, and bosutinib. This is a review of new ALS drugs that are either currently available or in on-going trials. We additionally review the pathogenic pathways that these drugs target.


Assuntos
Esclerose Amiotrófica Lateral , Atrofia Muscular Espinal , Progressão da Doença , Humanos , Japão
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1175-1178, 2019 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-31813141

RESUMO

OBJECTIVE: To explore the feasibility of high performance liquid chromatography (DHPLC) combined with multiple ligation-dependent probe amplification (MLPA) for the prenatal diagnosis of spinal muscular atrophy (SMA). METHODS: Three families who had given birth to children with SMA type I were subjected to prenatal diagnosis. Peripheral blood samples were collected from the three couples, and 10 mL amniotic fluid was taken for each fetus through amniocentesis at 16-24 gestational week. Following DNA extraction, maternal contamination was excluded by STR analysis. Copy numbers of the SMN genes were detected by denaturing high performance liquid chromatography (DHPLC). Relative copy number of SMN1, SMN2 and reference genes was detected with a MLPA P021 assay kit. RESULTS: The three couples were all found to harbor heterozygous deletion of exon 7 of the SMN1 gene by DHPLC. MLPA analysis also suggested that the three couples were all carriers of SMA mutations. The fetus of family 1 harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus had SMA. The fetus of family 2 also harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, while the copy number of SMN2 gene was normal, suggesting that the fetus was a SMA patient too. The fetus of family 3 harbored heterozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus was a carrier. CONCLUSION: DHPLC can effectively screen carriers of SMA mutations. Combined DHPLC and MLPA can provide accurate diagnosis for fetuses with a high risk for SMA.


Assuntos
Cromatografia Líquida de Alta Pressão , Atrofia Muscular Espinal/diagnóstico , Técnicas de Amplificação de Ácido Nucleico , Criança , Feminino , Homozigoto , Humanos , Gravidez , Diagnóstico Pré-Natal , Deleção de Sequência , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Proteína 2 de Sobrevivência do Neurônio Motor/genética
7.
Fortschr Neurol Psychiatr ; 87(12): 703-710, 2019 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-31847032

RESUMO

With Nusinersen, a first causative treatment for 5q-associated spinal muscular atrophy (SMA) has been available in Europe since 2017. Real-world data from neuromuscular clinical centers in Germany increasingly show a therapeutic benefit of nusinersen also in adult SMA patients of both sexes: in many cases, relevant improvements in or at least a stabilization of motor functions are achieved, potentially leading to enhanced autonomy in activities of daily life and to improved quality of living. Even in patients with severe spinal deformities, intrathecal application is usually feasible and safe using imaging modalities. Regular systematic evaluation of the motor status with validated instruments is crucial for adequate monitoring of the therapeutic effects. The documentation in SMA registries enables systematic development of a database for further development of this novel treatment paradigm. Relevant aspects of this novel therapeutic principle were discussed at an experts conference in Frankfurt / Main in February 2019.


Assuntos
Atrofia Muscular Espinal , Oligonucleotídeos , Adulto , Feminino , Alemanha , Humanos , Masculino , Atrofia Muscular Espinal/tratamento farmacológico , Oligonucleotídeos/uso terapêutico
8.
Ciudad Autónoma de Buenos Aires; Ministerio de Salud y Desarrollo Social. Secretaria de Salud. Comisión Nacional de Evaluación de Tecnologías en Salud; Noviembre 2019. 24 p. (Informe de Tecnologías Sanitarias, 1).
Monografia em Espanhol | BINACIS, ARGMSAL | ID: biblio-1025122

RESUMO

Este informe de evaluación de tecnologías sanitarias fue elaborado por la Comisión Nacionalde Evaluación de Tecnologías de Salud (CONETEC), de acuerdo a los procedimientos establecidos en el documento "Manual de Estructura y Funcionamiento" y siguiendo los lineamientos establecidos en el "Manual metodológico para el desarrollo de reportes evaluación de tecnologías sanitarias". La Atrofia Muscular Espinal se trata de una patología poco frecuente, altamente discapacitante y con elevada mortalidad en sus formas más graves. En un 45% de los casos, los pacientes presentan síntomas antes de los primeros 6 meses de vida. Tiene un gran impacto en la calidad de vida de los pacientes y sus familias y constituye la principal causa de mortalidad infantil por una enfermedad genética. Hasta el desarrollo de la tecnología analizada, no existía un tratamiento específico sino sólo tratamiento de sostén.1 La nueva tecnología evaluada presenta resultados promisorios con impacto en la morbimortalidad en algunos de los tipos de la enfermedad, pero a un costo que podría amenazar la sustentabilidad del sistema de salud.


Assuntos
Avaliação da Tecnologia Biomédica , Atrofia Muscular Espinal , Epidemiologia
9.
Buenos Aires; CONETEC; nov. 2019. tab.
Não convencional em Espanhol | BRISA/RedTESA | ID: biblio-1025032

RESUMO

INTRODUCCIÓN: La Atrofia Muscular Espinal (AME) es una enfermedad neuromuscular hereditaria caracterizada por la afectación de las células del asta anterior de la médula espinal (neuronas motoras), que cursa con debilidad proximal simétrica y atrofia progresiva de los grupos musculares. Es una patología poco frecuente, altamente discapacitante y con elevada mortalidad en sus formas más graves. Tiene una incidencia aproximada de 1 cada 6.000/10.000 nacidos vivos, y constituye la principal causa de mortalidad infantil por una enfermedad genética. Actualmente, no existe un tratamiento curativo para la AME; sólo se dispone de tratamiento sintomático para retrasar la progresión de la enfermedad y sus efectos discapacitantes, y tratamiento de sostén nutricional, ventilatorio y neuromuscular para mitigar sus complicaciones. OBJETIVO: El objetivo del presente informe es evaluar la evidencia disponible acerca de la eficacia, seguridad y políticas de cobertura de nusinersen para el tratamiento de la atrofia muscular espinal y el impacto presupuestario de su potencial inclusión en la cobertura del sistema de salud. DESCRIPCIÓN DE LA TECNOLOGÍA: Nusinersen (ISIS-SMNRx o ISIS 396443, SPINRAZANR) es un oligonucleótido antisentido, diseñado para alterar el empalme de ARN mensajero del gen SMN2 y aumentar la síntesis de proteína SMN funcional compensando así la ausencia de proteína SMN protectora, causada por el defecto en el gen SMN1, y la consecuente atrofia muscular. Se encuentra aprobado por FDA (Food and Drug Administration) y EMA (European Medicines Agency) para el tratamiento de AME6. BÚSQUEDA BIBLIOGRÁFICA: Se llevó a cabo una búsqueda bibliográfica utilizando las siguientes palabras claves: nusinersen (all) OR spinraza (all). Se exploraron las siguientes bases de datos: PubMed, Cochrane Library, Biblioteca Virtual en Salud, Biblioteca Central de Medicina (RIMA), Epistemonikos, Tripdatabase, Lilacs, NICE, National Guidelines Clearinghouse, Scielo, Clinical Trials, Orphanet. También se realizó búsqueda manual. Se encontraron 5 estudios8­12, todos ellos financiados por el productor de la tecnología, de los cuales se seleccionaron 2 estudios de fase 3.8,9 Se consideraron además documentos de aprobación de FDA13, EMA14y NHS15.Se revisó información aportada por el fabricante, que solicitó un registro especial. RESULTADOS: Existe evidencia de que el nusinersen para AME tipo I disminuye la mortalidad y el requerimiento de asistencia ventilatoria mecánica, así como también mejora la función motora permitiendo el desarrollo y la adquisición de ciertas habilidades (por ejemplo sentarse, permanecer de pie o caminar) hasta por lo menos los 13 meses de observación. Por otro lado, si bien existe evidencia sobre el uso de nusinersen en pacientes con AME tipo II que muestra una mejora en la función motora a los 15 meses de tratamiento, no se encontró evidencia sobre efectos en la mortalidad, el requerimiento de asistencia ventilatoria mecánica o la calidad de vida. No se encontró evidencia sobre el uso de nusinersen en pacientes con AME de inicio luego de los 20 meses de edad (la mayoría de los pacientes con diagnóstico de AME tipo III y todos los tipo IV). La incidencia global de Efectos Adversos (EAs) resultó similar en los grupos nusinersen y control, al igual que los EAs moderados o graves. Sin embargo, una comunicación de julio de 2018 del productor de la tecnología revela que se han notificado casos de hidrocefalia comunicante no asociada a meningitis ni a hemorragia en pacientes tratados con nusinersen. Varios de estos pacientes fueron tratados mediante la colocación de una Válvula de Derivación Ventriculoperitoneal (VDVP). La eficacia o riesgos de nusinersen tras la implantación de una VDVP se desconocen. No hay información fehaciente más allá del seguimiento publicado y a largo plazo. CONCLUSIONES: Existe evidencia proveniente de un único ensayo clínico aleatorizado con seguimiento a 13 meses que muestra que nusinersen para pacientes con Atrofia Muscular Espinal tipo I disminuye la mortalidad y el requerimiento de asistencia ventilatoria mecánica, así como también mejora la función motora permitiendo el desarrollo y la adquisición de ciertas habilidades (sentarse, permanecer de pie, caminar). Existe evidencia proveniente de un único ensayo clínico sobre la utilización de nusinersen en pacientes con Atrofia Muscular Espinal tipo II, que muestra una mejora en la función motora a los 15 meses de tratamiento en el subgrupo de pacientes con edad de comienzo menor a los 20 meses, aunque no se encontró evidencia sobre efectos en la mortalidad, el requerimiento de asistencia ventilatoria mecánica o la calidad de vida. No se encontró evidencia sobre el uso de nusinersen en pacientes con Atrofia Muscular Espinal de inicio luego de los 20 meses de edad (la mayoría de los AME tipo III y todos los tipo IV).


Assuntos
Humanos , Atrofia Muscular Espinal/tratamento farmacológico , Oligonucleotídeos Antissenso/uso terapêutico , Avaliação da Tecnologia Biomédica , Análise Custo-Eficiência
12.
Adv Exp Med Biol ; 1175: 227-272, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31583591

RESUMO

Motor neuron disorders are highly debilitating and mostly fatal conditions for which only limited therapeutic options are available. To overcome this limitation and develop more effective therapeutic strategies, it is critical to discover the pathogenic mechanisms that trigger and sustain motor neuron degeneration with the greatest accuracy and detail. In the case of Amyotrophic Lateral Sclerosis (ALS), several genes have been associated with familial forms of the disease, whilst the vast majority of cases develop sporadically and no defined cause can be held responsible. On the contrary, the huge majority of Spinal Muscular Atrophy (SMA) occurrences are caused by loss-of-function mutations in a single gene, SMN1. Although the typical hallmark of both diseases is the loss of motor neurons, there is increasing awareness that pathological lesions are also present in the neighbouring glia, whose dysfunction clearly contributes to generating a toxic environment in the central nervous system. Here, ALS and SMA are sequentially presented, each disease section having a brief introduction, followed by a focussed discussion on the role of the astrocytes in the disease pathogenesis. Such a dissertation is substantiated by the findings that built awareness on the glial involvement and how the glial-neuronal interplay is perturbed, along with the appraisal of this new cellular site for possible therapeutic intervention.


Assuntos
Esclerose Amiotrófica Lateral/fisiopatologia , Astrócitos/citologia , Neurônios Motores/patologia , Atrofia Muscular Espinal/fisiopatologia , Humanos , Mutação
14.
Rev Med Liege ; 74(9): 461-464, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-31486315

RESUMO

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium.


Assuntos
Atrofia Muscular Espinal , Bélgica/epidemiologia , Humanos , Lactente , Recém-Nascido , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/epidemiologia , Triagem Neonatal , Projetos Piloto
16.
Muscle Nerve ; 60(6): 687-692, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31478199

RESUMO

INTRODUCTION: Nerve imaging has a limited role in axonal and muscle fiber loss. In this study, we sought to explore the utility of standardized muscle ultrasound (US) assessment in these clinical scenarios. METHODS: We performed a prospective study from March to August 2018 of patients attending the neuromuscular clinic. All patients underwent clinical evaluation and standardized muscle thickness measurement by US in seven muscles. RESULTS: The study cohort consisted of 114 participants, including patients with polyneuropathy, motor neuron disease, and myopathy. The smallest distal muscle thickness was found in patients with polyneuropathy, while the smallest proximal muscle thickness was found in patients with myopathy. Muscle thickness was strongly correlated with muscle strength (r 2 = 0.62), electrophysiological findings (r 2 : 0.44-0.55), and disability score (r 2 = 0.53). DISCUSSION: Standardized muscle thickness measured by US shows diagnostic usefulness in a spectrum of neuromuscular disorders and correlates with clinical and electrophysiological findings.


Assuntos
Músculo Esquelético/diagnóstico por imagem , Doenças Neuromusculares/diagnóstico por imagem , Potenciais de Ação/fisiologia , Adulto , Idoso , Esclerose Amiotrófica Lateral/diagnóstico por imagem , Esclerose Amiotrófica Lateral/patologia , Esclerose Amiotrófica Lateral/fisiopatologia , Eletromiografia , Feminino , Humanos , Masculino , Sintomas Inexplicáveis , Pessoa de Meia-Idade , Força Muscular , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Atrofia Muscular Espinal/diagnóstico por imagem , Atrofia Muscular Espinal/patologia , Atrofia Muscular Espinal/fisiopatologia , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/patologia , Doenças Musculares/fisiopatologia , Condução Nervosa/fisiologia , Doenças Neuromusculares/patologia , Doenças Neuromusculares/fisiopatologia , Tamanho do Órgão , Polineuropatias/diagnóstico por imagem , Polineuropatias/patologia , Polineuropatias/fisiopatologia , Estudos Prospectivos , Radiculopatia/diagnóstico por imagem , Radiculopatia/patologia , Radiculopatia/fisiopatologia , Ultrassonografia
17.
Cad. Ibero Am. Direito Sanit. (Impr.) ; 8(3): 48-59, jul.-set. 2019.
Artigo em Português | LILACS | ID: biblio-1022852

RESUMO

Objetivo: discutir o processo regulatório de medicamentos para doenças raras no Brasil, com base no caso Zolgensma®, e avaliar criticamente as evidências disponíveis até o momento sobre a eficácia e a segurança do Zolgensma® no tratamento da atrofia muscular espinhal (AME). Metodologia: estudo descritivo realizado no Núcleo de Avaliação de Tecnologias em Saúde do Hospital Sírio-Libanês (NATS-HSL) em junho de 2019. Resultados: em abril de 2019, o uso do Zolgensma® para AME foi regulamentado nos Estados Unidos com base em dois estudos clínicos abertos (sem mascaramento), sem grupo comparador paralelo (e, portanto, não randomizados). Essas limitações metodológicas aumentam a incerteza nos resultados encontrados. A Agência Nacional de Vigilância Sanitária (Anvisa) aprovou estratégias para regulamentar o processo e os prazos de análise das submissões de registro de novos medicamentos para doenças raras, caso do Zolgensma®. Conclusão: faz-se necessário ampliar o debate em torno do processo de regulamentação e de incorporação de medicamentos órfãos para doenças raras no Brasil. O debate deve incluir as evidências relacionadas aos efeitos ­ benefícios e riscos ­ desses medicamentos, e maior clareza nos critérios para concessão de registro e recomendação de incorporação em sistemas de saúde. (AU).


Objective: to discuss the regulatory process of drugs for rare diseases in Brazil, based on the Zolgensma® case, and to critically evaluate the evidence so far available on the efficacy and safety of Zolgensma® for treating spinal muscular atrophy (SMA). Methods: descriptive study conducted at the Health Technology Assessment Center of the Sírio Libanês Hospital (NATS-HSL) in June 2019. Results: in April 2019, the use of Zolgensma® for SMA was regulated in the United States based on two open-lable (unmasked), non-comparative (and therefore non-randomized) studies. These methodological limitations increase the uncertainty related to study results. The National Agency of Sanitary Surveillance (Anvisa) has approved strategies to regulate the process and specific deadlines for completing the appraisal process of new medicines for rare diseases, such as Zolgensma®. Conclusion: it is necessary to broaden the debate about the process of regulation and incorporation of orphan drugs for rare diseases in Brazil. This debate should include evidence related to the effects (benefits and risks) of these drugs, and greater transparency of the criteria indispensable for granting registration and recommendation of incorporation into health systems. (AU).


Objetivo: analizar el proceso de fármacos reguladores para enfermedades raras en Brasil, con base en el caso Zolgensma, y para evaluar críticamente la evidencia disponible hasta el momento sobre la eficacia y seguridad de Zolgensma® nel tratamiento de atrofia muscular espinal (AME). Métodos: estudio descriptivo realizado en el Centro de Evaluación de Tecnología de Salud del Hospital Sírio-Libanês (NATS-HSL) en junio de 2019. Resultados: en abril de 2019, el uso de Zolgensma® para la AME se reguló en los Estados Unidos basado en dos estudios abiertos (no enmascarados), no comparativos (y por lo tanto no aleatorios). Estas limitaciones metodológicas aumentan la incertidumbre en los resultados encontrados. La Agencia Nacional de Vigilancia Sanitaria en Brasil (Anvisa) ha aprobado estrategias para regular el proceso y los plazos de análisis de las solicitudes de registro de nuevos fármacos para enfermedades raras, el caso de Zolgensma. Conclusión: es necesario ampliar el debate sobre el proceso de regulación e incorporación de medicamentos huérfanos para enfermedades raras en Brasil. Este debate debe incluir evidencia relacionada con los efectos (beneficios y riesgos) de estos medicamentos y una mayor transparencia en los criterios para otorgar el registro y la recomendación de incorporación a los sistemas de salud. (AU).


Assuntos
Atrofia Muscular Espinal , Terapia Genética , Doenças Raras , Registro de Produtos , Medicamentos do Componente Especializado da Assistência Farmacêutica
18.
Neurol Neurochir Pol ; 53(4): 291-295, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31441493

RESUMO

AIM OF THE STUDY: Postural deformities are common in Parkinson's disease (PD) patients. Several treatment options have been reported, but responses to these treatments appear unpredictable. Istradefylline is a novel drug for PD. Cases of PD patients whose postural deformities were improved after withdrawal of dopamine agonists and initiation of istradefylline are presented. MATERIALS AND METHODS: Four consecutive patients with postural deformities including antecollis, Pisa syndrome, and camptocormia were recruited and treated with istradefylline in combination with withdrawal of dopamine agonists, which are possible causes of postural deformities. RESULTS: The dopamine agonists were discontinued an average of 26 months after the development of the postural deformities, and istradefylline was initiated an average of 1.3 months after dopamine agonist withdrawal. Three patients with preserved paraspinal muscle volume showed good responses to the treatment regimen at least two months after dopamine agonist withdrawal. CONCLUSIONS AND CLINICAL IMPLICATIONS: Postural deformities caused by dopamine agonists generally improve less than two weeks after dopamine agonist withdrawal. Given the response time in the present study, the response was unlikely to be caused solely by dopamine agonist withdrawal. Istradefylline can be a potential therapeutic option; however, appropriate selection of patients for treatment with istradefylline is warranted.


Assuntos
Atrofia Muscular Espinal , Doença de Parkinson , Purinas/uso terapêutico , Curvaturas da Coluna Vertebral , Humanos , Doença de Parkinson/tratamento farmacológico
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