Mucopolysaccharidosis (MPS disorders)

Subgroups

  • Hurler (MPS I)
  • Hunter (MPS II)
  • Sanfilippo (MPS III)
  • Morquio (MPS IV)
  • Maroteaux Lamy (MPS VI)
  • Sly syndrome (MPS VII)

Estimated occurrence

Very rare

Etiology

Mucopolysaccharidosis is an umbrella term for metabolic disorders caused by a lack of various lysosomal enzymes. Lysosomal enzymes are needed to break down certain substances that will otherwise collect in the body and damage various organs.

General symptoms

Complete or partial lack of lysosomal enzymes can affect all cells in the body, and lead to serious and continuous symptoms in the body’s various organs, such as the heart, skeleton, joints, breathing organs and central nervous system.

Orofacial/odontological symptoms

Characteristic facial features are associated with certain MPS disorders. Teeth can be disproportionately small and have fragile enamel. Some have a small lower jaw but other types of malocclusion are also common. Large tongue and impaired jaw opening may occur. If the airways are narrow, there is an increased risk for obstructive sleep apnea. In cases of neurological functional impairment, oral motor and speech development can be affected. Difficulties eating and reduced saliva control are common.

Orofacial/odontological treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential in cases of difficulty with managing dental treatment and tooth brushing.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed. When the jaws do not open properly, the function of the jaw joint should be investigated, and appropriate treatment thereafter prescribed.
  • When treating medically compromised patients always contact their doctor for medical advice (bleeding problems, heart diseases etc).
  • Patients with MPS syndromes should always be examined by an experienced anaesthetist before planned surgery.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Oral motor training and stimulation may be appropriate in cases of eating difficulties, speaking difficulties and reduced saliva control.
  • Speech, language and communication training is often warranted.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-03-24 10:20