Salla disease

Salla Disease

Salla disease (pronunciation: /ˈsɑːlə diːˈziːz/), also known as Salla mental retardation syndrome, is a rare inherited disorder characterized by slow physical development and intellectual disability. The disease is named after the municipality of Salla, in Finland, where it was first identified.

Etymology

The term "Salla" is derived from the Finnish municipality of the same name, where the disease was first discovered. The term "disease" comes from the Old French desaise, meaning "lack of ease".

Symptoms

Symptoms of Salla disease typically appear in infancy and may include hypotonia (low muscle tone), ataxia (lack of muscle control), and delayed motor skills development. Other symptoms may include nystagmus (involuntary eye movement), dysarthria (difficulty speaking), and seizures.

Causes

Salla disease is caused by mutations in the SLC17A5 gene. This gene provides instructions for producing a protein that is involved in the transport of certain molecules across cell membranes. Mutations in the SLC17A5 gene disrupt this transport process, leading to the accumulation of harmful substances in cells and causing the signs and symptoms of Salla disease.

Diagnosis

Diagnosis of Salla disease is based on clinical symptoms and confirmed by genetic testing to identify mutations in the SLC17A5 gene. Other diagnostic tests may include magnetic resonance imaging (MRI) to identify characteristic brain abnormalities.

Treatment

There is currently no cure for Salla disease. Treatment is supportive and aims to manage symptoms. This may include physical therapy to improve muscle tone and coordination, medication to control seizures, and special education services to address intellectual disability.

Related Terms

• SLC17A5
• Hypotonia
• Ataxia
• Nystagmus
• Dysarthria
• Seizures
• Magnetic Resonance Imaging
• Genetic Testing

External links

• Medical encyclopedia article on Salla disease
• Wikipedia's article - Salla disease

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