Myotonic dystrophy

Reports from the MHC data base

Report from the Questionnaire (PDF)

Report from the Observation Chart (PDF)

Synonym  

Steinert's muscular dystrophy.

Codes

ICD-10: G71.1
ORPHA: 273

Estimated occurrence  

12:100,000 inhabitants.

Etiology  

Myotonic dystrophy type 1 (DM1) is a neuromuscular disease with autosomal dominant heredity. DM1 is caused by a defect (tricucleotide expansion) on the DMPK gene on chromosome 19 (19q13.3).

General symptoms  

There are four sub-groups of DM1 depending on age at onset – congenital, childhood, classical and mild. In general, the earlier the symptoms occur, the more severe the clinical symptoms of the disease will be. DM1 is a neuromuscular disease with muscle weakness, muscle wasting and myotonia (delayed muscle relaxation) as cardinal symptoms. Multiple systems can be affected such as the heart, smooth muscle, brain, endocrine regulation and skin. Most individuals with congenital and childhood DM1 have learning disability and the frequency of neuropsychiatric disorders is higher than in the general population. The disease has a slowly progressive course.

Orofacial/odontological symptoms  

Sucking difficulties and breathing problems are common in newborns. Weak orofacial muscles may lead to impaired facial expression, open mouth posture and difficulties with eating, speech and saliva control. The muscular wasting may affect facial growth and cause malocclusion. Some have problems with the temporomandibular joints and impaired jaw opening capacity. There is also an increased risk for caries and gingivitis in individuals with dry mouth and impaired self oral clearance. An increased sensitivity for general anaesthesia drugs has been reported.

Orofacial/odontological treatment  

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • In cases of temporomandibular joints disorders, this should be investigated and appropriate treatment thereafter prescribed.
  • Orofacial therapy and oral motor skills training in cases of difficulties with eating, speech or drooling.
  • Speech, language and communication training are often required.
  • When treating medically compromised patients always contact their doctors for medical advice.

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 centre.
Updated: 2017-09-12 13:21