ABSTRACT
@#Amyoplasia is the most common form of arthrogryposis (multiple congenital contracture). It has an estimated incidence of one in 10,000 live births. Lower limb-amyoplasia is a specii c subtype with an estimated incidence of 1 in 75,000 - 100,000 live births. There are only 85 cases of lower limb amyoplasia identii ed in literature, and there are no published cases from the Philippines. We discuss a rare case of lower limb amyoplasia in an 11-year-old Filipino female presenting with additional unique features of severe scoliosis (managed with spine correction surgery) and multiple skin dimples in the gluteal area. The study was performed according to the CARE guidelines for case reports.
Subject(s)
Arthrogryposis , ScoliosisABSTRACT
ABSTRACT OBJECTIVE: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS: Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULTS: Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.). Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted. CONCLUSIONS: It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.
RESUMO OBJETIVO: A artrogripose múltipla congênita é uma síndrome neuromuscular relativamente rara, com prevalência de 1:3000-5000 recém-nascidos. É por isso que, neste estudo, descrevemos as características clínicas de um grupo de 50 casos de pacientes mexicanos não relacionados com artrogripose múltipla congênita. MÉTODOS: Os pacientes foram diagnosticados por exame físico e radiográfico e o histórico familiar foi avaliado. RESULTADOS: Descrevemos 50 pacientes não relacionados com artrogripose múltipla congênita. Nove deles apresentaram outras características (pectus excavatum, fissura palatina, retardo mental, agenesia da ulna etc.). Foram analisados os fatores ambientais, pré-natais e o histórico familiar. Relatamos as anomalias cromossômicas e as entidades clínicas associadas com a artrogripose múltipla congênita. Não havia aberração cromossômica nos casos com retardo mental. Também encontramos três casos familiares não relacionados com artrogripose múltipla congênita, em que são possíveis padrões de herança autossômica recessiva, autossômica dominante e ligada ao cromossomo X. Também analisamos a preocupação da literatura com a artrogripose múltipla congênita. CONCLUSÕES: Reiteramos a ideia de que é importante estabelecer programas de fisioterapia e reabilitação específicos para os pacientes. É necessária uma abordagem multidisciplinar com cuidado médico, cirúrgico, de reabilitação, social e psicológico, incluindo aconselhamento genético.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Arthrogryposis/epidemiology , Arthrogryposis/classification , Arthrogryposis/diagnosis , Arthrogryposis/genetics , Cross-Sectional Studies , Family , Karyotype , Limb Deformities, Congenital/genetics , Mexico/epidemiology , Pedigree , Prospective StudiesABSTRACT
Objetivos: Descrever a atuação da fisioterapia aquática funcional no arrastar na postura sentada em uma criança com amioplasia congênita.Descrição do Caso: Uma menina de três anos de idade, portadora de amioplasia congênita, participou de um programa de reabilitaçãocomposto por 24 sessões de fisioterapia aquática. As avaliações foram realizadas no primeiro dia, após 12 sessões e ao final do programa.Foram mensurados o tempo de arrastar na postura sentada e os itens 24 (sentada no tapete mantém braços livres por três segundos) e 25(sentada no tapete toca brinquedo pequeno na frente), da dimensão sentar do instrumento Gross Motor Function Measure 88 (GMFM-88). Otratamento foi um programa de exercícios com objetivo de ativação muscular, flexibilidade, transferência de peso e estabilização de tronco napostura sentada. Após a intervenção de fisioterapia aquática, verificou-se melhora da função motora, com maior velocidade de deslocamentona posição sentada.Conclusões: Verificaram-se resultados positivos após o programa de fisioterapia aquática aplicada a essa paciente com amioplasia congênita.Observou-se evolução no controle de tronco, melhorando sua estabilidade e repercutindo em sua funcionalidade, com aumento da velocidadeno arrastar na postura sentada.
Aims: To describe the role of aquatic therapy in drag on sitting posture in a child with congenital amyoplasia.Case Report: A three-year-old girl with congenital amyoplasia participated in a rehabilitation program consisting of 24 sessions of aquatictherapy. The evaluations were performed on the first day, after 12 sessions and at the end of the program. The time of drag in the seatedposition and the items 24 (sitting on the mat keeps arms free for three seconds) and 25 (sitting on the carpet plays small toy in front) of thesitting dimension of the instrument Gross Motor Function Measure 88 (GMFM-88) were measured. The therapy consisted of an exerciseprogram with the goals of muscle activation, flexibility, weight transfer and trunk stabilization in the seated position. After the aquatic therapyintervention there was improvement in motor function, with greater displacement speed in the sitting position.Conclusions: Following the aquatic therapy program applied to this patient with congenital amyoplasia, positive results were verified.There was improvement in trunk control, increasing its stability and reflecting on its functionality, with greater speed in drag in the sittingposture.
ABSTRACT
La artrogriposis es un hallazgo clínico poco común, consistente en contracturas articulares congénitas, no progresivas, que pueden asociarse a otras entidades clínicas, afectando a 1 de cada 3000 nacidos vivos. Se presenta el caso de un paciente masculino de 29 años atendido en un hospital de alta complejidad de Pereira, diagnosticado al año de edad con artrogriposis. Ninguna especialidad se hizo cargo del manejo integral de paciente, en lugar de fisioterapia y ortesis durante su crecimiento osteomuscular, se realizaron más de 14 intervenciones quirúrgicas a la fecha. Actualmente presenta limitación funcional articular, atrofia muscular generalizada, fibrilación auricular, degeneración mixomatosa de la válvula mitral, estado de ánimo crónicamente disminuido y pobre inclusión social y laboral. Se pretende orientar el manejo adecuado de estos casos, para que pacientes con artrogriposis puedan ser diagnosticados y tratados oportunamente, y ser parte integral de la sociedad.
Arthrogryposis is a rare clinical finding that consists in not progressive, congenital joint contractures that can be associated with other clinical entities, affecting 1 in 3000 live births. It is presented the case of a male patient aged 29, treated at a high complexity hospital in Pereira city, diagnosed a year old, as arthrogryposis. No medical specialty took full patient management. Instead of physiotherapy and splinting during his musculoskeletal growth, it was performed more than 14 surgeries to date. Currently has a joint functional limitation, generalized muscle atrophy, significant atrial fibrillation, myxomatous degeneration of the mitral valve, chronically decreased mood and poor social and occupational inclusion. This article aims to guide the appropriate management of these cases, for patients with Artrogriposis may be diagnosed and treated promptly, and be an integral part of society.
Subject(s)
Humans , Male , Adult , Arthrogryposis , Atrial Fibrillation , Muscular Atrophy , Physical Therapy Modalities , Colombia , Contracture , Hospitals , Joints , Mitral ValveABSTRACT
A artrogripose múltipla congênita clássica é caracterizadapor contraturas articulares incapacitantesdiagnosticadas ao nascimento. Descreve-seum caso de amioplasia, a forma mais frequentedessa doença, coexistente com puberdade isossexualprecoce que se iniciou em uma menina comsete anos e dez meses de idade. A associação deamioplasia com puberdade precoce não foi previamenterelatada. Embora essa associação possaconstituir um fenômeno casual, descreve-se o estudode caso por sua raridade.
Classic arthrogryposis multiplex congenital is characterizedby disabilitating joint contractures diagnosedat birth. A case of amyoplasia, the most frequentform of this disease, is described co-occurring withisosexual precocious puberty in a seven-year-old femalepatient. Association between amyoplasia andprecocious puberty has not been previously reportedin the literature. Although this association may be acasual phenomenon, this case is being reported dueto its rarity.
ABSTRACT
Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita (AMC). AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10, 000 live births, and mainly refers to the disorders with limb involvement. In this report, the author presents a premature baby with amyoplasia congenita, whose hips showed flexion, abduction, and external rotation contractures. The knees showed fixed extension contractures, so that his lower extremities were cylindrical with absent skin creases at birth.