Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study

Abstract

Background: 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.

Purpose: To describe physical function and activity strategies in adults with amyoplasia, as this knowledge is important for relevant function-enhancing measures.

Materials and methods: 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.

Results: 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.

Conclusions: 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.

Keywords:

• Joint mobility
• muscle strength
• anthropometry
• participation
• activities of daily living
• compensatory strategies

Acknowledgements

We would like to thank the Norwegian Foundation for AMC for their useful contributions in the planning process of the study and all the persons who participated and made this study possible. We also want to thank physiotherapist Tove Helland for her cooperation in all the body measurements, all our colleagues at TRS for interesting discussions and special thanks to Trine Bathen and Anne-Mette Bredahl for useful help.

Disclosure statement

The authors report no conflicts of interest.

Funding

TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital funded the study.