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Signs and symptoms

The impaired degradation and storage of dermatan sulphate and heparan sulphate in MPS I and MPS II affects most cell types and tissues in the body, resulting in widespread signs and symptoms.1

The diseases manifest in the cardiovascular, respiratory, gastrointestinal and musculoskeletal systems, skin, eyes, and ears. Recurrent respiratory infections and airway obstruction, cardiac disease, skeletal deformities and restricted joint movement, disproportionate short stature and characteristic coarse facial features are hallmarks of MPS I/MPS II.1,2 In addition, the most severely affected individuals suffer neurologic deterioration that leads to profound mental disability.3,4

The somatic and neurologic manifestations of MPS I/MPS II are chronic and progressive, leading to premature death except in the most mild or attenuated cases. This section describes how to recognise MPS I and MPS II, the signs and symptoms, clinical spectrum and course of these two clinically similar but biochemically distinct disorders.

Identifying MPS I & MPS II

Identifying MPS I & MPS II

MPS I and MPS II affect multiple organ systems, resulting in a wide range of often non-specific, seemingly unrelated signs and symptoms that make recognition of the disorders challenging in clinical practice.

Clinical Presentation

Clinical Presentation

MPS I and MPS II share a range of signs and symptoms arising from the widespread storage of dermatan sulphate and heparan sulphate in the body. There are few distinctive features enabling the disorders to be distinguished clinically.

Case Studies

Case Studies

Read case studies that highlight important aspects of MPS I and MPS II diagnosis.

References

  1. 1.Wraith JE, Scarpa M, Beck M, et al. (2008) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167(3): 267-277.
  2. 2.Muenzer J, Wraith JE, Clarke LA, International Consensus Panel on M, Treatment of Mucopolysaccharidosis I. (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123(1): 19-29.
  1. 3.Beck M, Arn P, Giugliani R, et al. (2014) The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med 16(10): 759-765.
  2. 4.Wraith JE, Beck M, Giugliani R, et al. (2008) Initial report from the Hunter Outcome Survey. Genet Med 10(7): 508-516.