Congenital muscular dystrophies

Reports from the MHC data base

Report from the Observation Chart (PDF) 

Subclasses

Congenital muscular dystrophy with laminin α2 deficiency, Ullrich congenital muscular dystrophy, Integrin α deficiency, Walker-Warburg syndrome, Muscle-eye-brain disease, Fukyamas congenital muscular dystrophy, Congenital muscular dystrophy 1C and 1D, LMNA-related congenital muscular dystrophy, Congenital muscular dystrophy with rigid spine.

Estimated occurrence

3:100,000 are born with some form of congenital muscular dystrophy.

Etiology

Autosomal recessive inheritance. Muscle function is affected by the deficiency or absence of certain proteins.

General symptoms

In congenital muscular dystrophy there is a congenital or early-onset muscle weakness and delayed motor development. Muscle weakness can lead to joint stiffness and curvature of the spine. Breathing is often weakened. The degree of muscle weakness varies greatly between individuals and different muscle groups may be more or less affected depending on the diagnosis. Muscle strength does not deteriorate as a rule, but the strain on the muscles increases as the child grows. Other organs aside from the muscles may also be affected, such as the heart, eyes and brain. Epilepsy is relatively common. Mental retardation and delayed language development may occur.

Orofacial / odontological symptoms

Weakening of the orofacial muscles can affect the growth of the jaws and lead to malocclusion, usually open bite. There is also an increased risk of developing stiffness of the temporomandibular joints, limiting the ability to open the mouth wide. Reduced muscle tone and the impacts on general health often result in sucking difficulties in infants. If muscle disease affects the orofacial muscles there is a risk for eating difficulties, speech difficulties and drooling. Oral motor development is sometimes delayed.

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.
  • When the jaws do not open properly, the function of the jaw joint should be investigated, and appropriate treatment thereafter prescribed.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Speech and language difficulties should be treated by a speech therapist.
  • Training in oral motor skills and low intensive exercises in cases of eating disorders and drooling may be necessary.

Source

  • 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 Center.
Updated: 2017-06-14 10:43