Steen Unni, Wekre Lena Lande, Vøllestad Nina Køpke
a TRS National Resource Centre for Rare Disorders , Sunnaas Rehabilitation Hospital , Nesoddtangen , Norway.
b Norwegian National Advisory Unit on Rare Disorders, NKSD , Oslo University Hospital , Oslo , Norway.
Disabil Rehabil. 2018 Nov;40(23):2767-2779. doi: 10.1080/09638288.2017.1357211. Epub 2017 Jul 24.
Amyoplasia, the most common form of arthrogryposis is characterized by typical deformities of the joints and replacement of skeletal muscles by fibrous tissue and fat. There is sparse literature on adaptation to adult life with amyoplasia.
To describe physical function and activity strategies in adults with amyoplasia, as this knowledge is important for relevant function-enhancing measures.
Twenty-two adults (20-91 years) with amyoplasia participated. Demographic factors and clinical history were registered. Body proportions were measured. Joint mobility and muscle strength in the upper limbs were examined. The Functional Independent Measure was used to assess performance of activities of daily living. Compensatory strategies were described.
The majority had undergone comprehensive conservative and surgical treatment. Mean height was below typical. Range of motion was below lower limit of normal in most joints, passive range of motion was mainly larger than active. Muscle strength was reduced for most movements. Seven were independent in all activities. Need of assistance was highest regarding bathing and dressing. A variety of compensatory strategies were used.
Adults with amyoplasia are heterogeneous regarding function. Independence in everyday life requires a combination of muscle strength to move against gravity, ability to passive joint motion, and use of compensatory strategies. Implications for rehabilitation The ability to joint motion in the upper extremities is essential for independency in activities of daily living, especially when the muscle strength is impaired. Training of muscle strength is recommended, whenever possible, as muscle strength to move against gravity makes the performing of everyday tasks easier. The use of compensatory techniques, adaptions to the environment and relevant, often custom made, assistive devices is required to perform activities of daily living. Living an active life with physical challenges like in amyoplasia requires flexible and individually adapted solutions.
先天性多发性关节挛缩症最常见的类型是先天性肌发育不全，其特征为典型的关节畸形以及骨骼肌被纤维组织和脂肪替代。关于先天性肌发育不全患者成年后的适应情况，相关文献较少。
描述先天性肌发育不全成年患者的身体功能和活动策略，因为这些知识对相关的功能增强措施很重要。
22名年龄在20至91岁之间的先天性肌发育不全成年患者参与了研究。记录了人口统计学因素和临床病史。测量了身体比例。检查了上肢的关节活动度和肌肉力量。使用功能独立性测量来评估日常生活活动能力。描述了代偿策略。
大多数患者都接受了全面的保守治疗和手术治疗。平均身高低于正常水平。大多数关节的活动范围低于正常下限，被动活动范围主要大于主动活动范围。大多数动作的肌肉力量都有所下降。7名患者在所有活动中均能独立完成。在洗澡和穿衣方面对帮助的需求最高。患者使用了多种代偿策略。
先天性肌发育不全成年患者在功能方面存在异质性。日常生活中的独立性需要结合对抗重力运动的肌肉力量、被动关节活动能力以及代偿策略的运用。康复意义上肢的关节活动能力对于日常生活活动的独立性至关重要，尤其是在肌肉力量受损时。只要有可能，建议进行肌肉力量训练，因为对抗重力运动的肌肉力量能使日常任务的执行更加轻松。进行日常生活活动需要使用代偿技术、对环境进行调整以及使用相关的、通常是定制的辅助设备。像先天性肌发育不全患者那样在身体有挑战的情况下积极生活需要灵活且个性化的解决方案。
