Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Abstract

Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician should play a lead role in the coordination of services for affected patients. The timing of occipito-cervical fusion and the selection of patients for this procedure remain unclear. A prophylactic approach to surgery is suggested in this review, although it is by no means clear that all patients will invariably develop cervical myelopathy if left untreated. Parents of affected children need considerable support in dealing with the affected child and the children themselves need help to try to come to terms with their severe physical disabilities. The Society for Mucopolysaccharide Diseases (55 Hill Avenue, Amersham, Bucks HP6 5BX, UK) has offered many parents and affected individuals considerable help as well as raising significant sums for research. Finally, it is important to remember the genetic nature of the disease and the possibility of prenatal diagnosis in subsequent pregnancies.

Psychological Health in Adults with Morquio Syndrome

“…Although exact disease incidence is unknown, a clinical review by Northover et al (1996) estimated it to be between 1:40,000 and 1:50,000 live births. A more recent review by Tomatsu et al (2011) reports epidemiologic data according to country, stating "MPS IV is a rare disorder, and precise epidemiologic data are scarce.…”

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

“…The reported incidence varies from 1 in 76,000 in Ireland (Nelson 1997) to 1 in 450,000 in Portugal (Pinto et al 2004). The classical description is of a skeletal dysplasia associated with short stature, but it has become apparent that it shares many features with the other MPS disorders like cardiac valve abnormalities, limited endurance, abnormal dentition, corneal clouding and cervical instability (Northover et al 1996).…”

The ocular features of the mucopolysaccharidoses

“…3 The main feature of MPS IV Morquio is the severe skeletal changes. 17 MaroteauxLamy (MPS VI) results in a spectrum of phenotypic severity, including short stature and variable skeletal deformities. 3 Affected individuals are usually intellectually normal.…”