Gouveia Filipa, Pinto Luisa, Santos Sousa Duarte, Carvalho João, Aguiar Branco Catarina
Physical Medicine and Rehabilitation, Unidade Local de Saúde de Entre o Douro e Vouga, Santa Maria da Feira, PRT.
Family Medicine, Unidade de Saúde Familiar Torrão, Administração Regional de Saúde do Norte, Agrupamento de Centros de Saúde Tâmega III, Lousada, PRT.
Cureus. 2024 Feb 11;16(2):e53993. doi: 10.7759/cureus.53993. eCollection 2024 Feb.
Arthrogryposis multiplex congenita (AMC) is a group of conditions characterized by multiple joint contractures. This rare disorder causes stiffness of joints, limiting the range of motion and negatively impacting activities of daily living (ADL). This case reports a 45-year-old male with AMC who was referred to physical medicine and rehabilitation (PMR). He had a limited range of movement in multiple joints and global muscle weakness. However, ADL were feasible, including walking. The patient had an unsteady barefoot gait, causing claudication, which improved significantly with adapted shoes. The primary goal of treatment is to improve the quality of life (QoL), and proper management should be promptly initiated. AMC requires a multidisciplinary approach to care with three mainstays of treatment: rehabilitation, orthoses, and corrective surgeries. Patients should be followed up periodically by their family doctors, and PMR evaluations and rehabilitation should be provided as needed. An orthopedic surgery consultation may be required for surgical interventions to provide optimal outcomes and augment the QoL.
先天性多发性关节挛缩症(AMC)是一组以多个关节挛缩为特征的病症。这种罕见的疾病会导致关节僵硬,限制活动范围,并对日常生活活动(ADL)产生负面影响。本病例报告了一名45岁患有AMC的男性,他被转诊至物理医学与康复科(PMR)。他多个关节的活动范围有限,且全身肌肉无力。然而,日常生活活动是可行的,包括行走。患者赤脚步态不稳,导致跛行,穿适配的鞋子后明显改善。治疗的主要目标是提高生活质量(QoL),应立即开始适当的管理。AMC需要多学科的护理方法,治疗的三个主要支柱是:康复、矫形器和矫正手术。患者应由家庭医生定期随访,并根据需要进行PMR评估和康复治疗。可能需要进行骨科手术咨询以进行手术干预,以提供最佳效果并提高生活质量。