Abstract
Mucopolysaccharidoses (MPSs) are multisystemic, chronic progressive, heterogeneous,
and life-threatening diseases, involving severely the musculoskeletal system, in particular
in MPS I, II, IV, VI, VII, and less prevalent in MPS III. Accumulation of glycosaminoglycans
(GAGs) in soft tissues, such as ligaments, tendons, and joint capsules, as well as
in cartilage, and bone lead to orthopedic complications: joint stiffness, contractures,
and skeletal deformities, resulting in hip dysplasia, genua valga, feet deformities,
kyphoscoliosis, narrowing of the spinal canal, atlantoaxial instability, carpal tunnel
syndrome, trigger finger, and growth retardation. These complications significantly
reduce the quality of life due to impaired mobility, loss of independency, and pain.
Compression of the cervical spinal cord is also life threatening. According to the
progressive nature of MPSs, musculoskeletal symptoms worsen over time and surgical
intervention may be inevitable. However, due to the increased anesthesia risk of MPSs,
surgical intervention has to be evaluated carefully by a multidisciplinary team. Additionally,
due to the rarity of the diseases, not many standards or recommendations are available
to determine the indication of a surgical intervention, so each intervention must
be decided individually, based on the few data available. In addition, conservative
treatment should be taken into consideration. Physiotherapy, pain medication, insoles,
orthosis, braces, corsets, and special footwear play a pivotal role. Unfortunately,
the skeletal tissues are poorly vascularized and enzyme replacement therapy does not
have much effect on them. It is important to detect and observe musculoskeletal complications
in the regular follow-up visits, in particular the life-threatening compression of
the cervical spinal cord.
Keywords
musculoskeletal - joints - craniocervical junction - mucopolysaccharidoses - dysostosis
multiplex
