Skeletal changes involve the degenerative hip dysplasia, which mechanistically is very like the osteoarthritis that some of us are affected with in older age but it’s occurring by the time these boys are in their teens and twenties.

- Dr David Whiteman

Musculoskeletal manifestations are nearly universal in Hunter syndrome patients, due to GAG accumulation in the soft tissues and chondrocytes.1,2 These manifestations include short stature, claw-like hands, joint contractures, joint stiffness, arthropathy, spine and rib deformities (kyphosis, scoliosis), gait problems, fine motor impairment, atlantoaxial instability and diffuse, symmetrical skeletal deformities.2,3 The constellation of musculoskeletal pathologies found in Hunter syndrome is known as dysostosis multiplex.2


Musculoskeletal changes can profoundly limit the mobility and quality of life of Hunter syndrome patients, for example, leading to toe-walking, or even the inability to walk independently.2 As with the other features of Hunter syndrome, musculoskeletal manifestations and pathologies may be attributed to other causes, so it is important to be able to differentiate these features from the inflammatory arthritides.2 An important differentiation with these diseases is that Hunter syndrome features evolve, yet are insensitive to anti-inflammatory treatments.2

Once Hunter syndrome is diagnosed, rheumatologists can help to assess and record musculoskeletal symptom progression with simple clinical examinations; the 6-minute walk test (to determine posture and walking ability), joint range-of-motion assessments and X-ray imaging.1,3,4 After ruling out neurological influences, patients can enter a physiotherapy programme, receive orthopaedic devices to assist with daily activities, or have surgery for more severe manifestations.1

Download an information leaflet for rheumatologists
For further information on the specialist management of Hunter syndrome patients by rheumatologists

Register for exclusive content

The contact information collected in this form will be used to subscribe you to receive electronic communication via email. *

You have the right to opt out of receiving electronic communications at any time by using the opt out link in the communication or by contacting us at privacyconnect@takeda.com

For more information on how Takeda processes your personal data, please refer to our Privacy Notice