Spielmeyer-Vogt disease

Codes

IDC-10: E75.4

ORPHA: 79264

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
5:1,000,000 inhabitants
Cause
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.
Synonyms
JNCL, Spielmeyer-Vogt disease, Juvenile Batten disease, CLN3

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.

Advice on follow-up and 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


Updated: 0001-01-01 00:00