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