Definition:
Salla disease is caused by a mutation on a gene ,that codes a protein that transports a charged sugar known as sialic acid, out of the lysosome.  The accumulation of sialic acid gives rise to the symptoms associated with this disorder.

Salla disease is one of 40 Finnish heritage diseases. Although its exact prevalence is unknown, Salla disease affects approximately 130 individuals, mainly from Finland and Sweden.

Symptoms:
Symptoms of this disorder present between six and nine months of age and are marked by involuntary eye movements, reduced muscle tone and strength, and mental retardation. Spastic muscle movements and seizures may present later in life.  Some individuals affected with this disorder learn to walk and to understand speech, but speaking is often impaired or restricted.

Inheritance Pattern:
Salla disease is an autosomal recessive disorder.

Life Expectancy:
The life expectancy for individuals with Salla disease is between the ages of 50 and 60.

Diagnosis and Testing:
A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid. Prenatal testing is also available for known carriers of this disorder.

Treatment:
There is no cure for Salla Disease. Treatment is limited to controlling the symptoms of this disorder. Anti-convulsant medication may control seizure episodes. Physical therapists can assist an affected individual to build muscle strength and coordination, and speech therapists may assist the affected individual in improving his or her speech.