Spielmeyer-Vogt Disease

Synonyms

  • JNCL
  • Juvenile Batten disease
  • CLN3

Codes:

ICD-10: E75.4
ORPHA: 79264

Estimated occurrence

5:1,000,000 inhabitants

Etiology

A genetic mutation to chromosome 16 (16p12.1). Autosomal recessive heredity.

General symptoms

As time goes by, the disease affects vision, motor skills, speech, language and cognition. Vision is impaired before school age, and by their early teens, most sufferers can’t see. Motor skills change, and movement patterns become more stiff, with poor balance and bent-knee walking. Many develop epilepsy and neuropsychiatric symptoms such as compulsiveness and concentration difficulties. Aggression, fear, nightmares, anxiety, depression and sleep disorders may also occur.

Orofacial/odontological symptoms

Reduced oral motor skills are part of the disease progression, which leads to difficulties eating and speaking. Speech is often fast, stuttering and inarticulate. Alternative communication may become appropriate.

Orofacial/odontological treatment

  • It is important that individuals with Spielmeyer-Vogts disease come in early contact with the dental services for extra preventive dental care and information about oral hygiene.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Speech, language and communication training are often required.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.

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: 2017-09-13 08:30