Autosomal recessive inherited through a mutated (changed) gene that controls the formation of the enzyme aspartylglycosaminidase. The gene of this enzyme is on chromosome 4.
Children are often symptom-free at birth. Gastrointestinal problems and repeated ear infections and respiratory infections are common during the first few years of life. Umbilical and inguinal hernia is common. First signs of abnormal development are motoric clumsiness, concentration difficulties and delayed speech and language development. Epilepsy and sleep disturbances are common. Some are sensitive to sunlight. After 25-30 years of age the person regresses at a faster rate in both motor and intellectual abilities.
Characteristic facial features are associated with the diagnosis. Effects on oral motor skills may cause problems with speech, eating and drooling. In some, the voice becomes hoarse. Enlarged gums (gingival hyperplasia), mucosal changes and swelling of the cheeks, enlarged tongue and impaired jaw opening capacity may occur. Malocclusions are frequent.
- 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 (such as jaw-stretching exercises or surgery).
- Speech and language difficulties should be treated by a speech therapist.
- Oral motor skill training and communication practice are often required.
- 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.