Two main types
Schindler disease may begin at any age. Schindler disease Type I (classic or infantile form) begins in infancy. Schindler disease Type II (also called Kanzaki disease) begins in adulthood. A defective gene on chromosome 22 has been linked to both types of Schindler disease. The disease is inherited in an autosomal recessive manner, meaning that a child must receive two copies of the defective gene, one from each parent, in order to develop the disease.
Some researchers also add an intermediate form with variable symptoms called Schindler disease Type III. The symptoms may range from speech and language delays, behavior problems, and mild autistic-like appearance, to mental retardation and seizures.
Symptoms
The symptoms of Schindler disease depend on which type is present.
- Type I (infantile)
- normal physical development during the first months of life
- severe loss of physical and mental skills (developmental regression) beginning at age 8-15 months
- severe mental retardation
- hearing and visual impairment
- seizures
- low muscle tone (hypotonia) and weakness, which later becomes muscle rigidity
- Type II
- clusters of wart-like discolorations on the skin (angiokeratomas)
- widening of groups of blood vessels (telangiectasia) which causes skin redness
- mild intellectual impairment
- may develop complications in the central and peripheral nervous systems
Diagnosis
Diagnosis of Schindler disease is based on the symptoms the individual has, as well as the age the symptoms began. A urine test, blood test, or skin sample (biopsy) may help confirm the diagnosis. In Schindler disease, the blood or skin sample will show decreased activity of alpha-NAGA.
Treatment
Treatment for Schindler disease focuses on its symptoms, since there is as yet no cure for the disease. Specialists such as a neurologist (for seizures or nervous system complications), eye doctor (ophthalmologist), and geneticist will be involved in the individual’s care. Physical and occupational therapy can help the individual with Type I disease maintain muscle movement and relieve discomfort.
Sources:
- "Schindler Disease." The Diseases. ISMRD. 19 Jan 2007 <http://www.mannosidosis.org/schindlerDisease.htm>.
- "Schindler Disease." Rare Diseases Database. 01 Jan 2007. National Organization for Rare Disorders. 19 Jan 2007 <http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Schindler%20Disease>.
- Umehara, F., K. Matsumuro, Y. Kurono, K. Arimura, M. Osame, T. Kanzaki. "Neurologic manifestations of Kanzaki disease." Neurology 62(2004): 1604-1606.
