Definition:
Salla disease is an autosomal recessive congenital disease affecting lysosomal storage, resulting in early physical impairment and mental abnormalities. It is also alternatively known as Finnish type sialuria or sialic acid storage disease.
Diagnosis:
Salla disease can be diagnosed based on clinical presentations of the disease. To confirm the diagnosis, an MRI (magnetic resonance imaging) can be done. In affected patients, MRI results show delayed or arrested myelination. In addition, tests can be done to screen urine samples for potentially elevated levels of free (unconjugated) sialic acid. Prenatal testing can also be used to determine the occurrence of Salla disease in fetuses.
Treatment:
Currently, there is no specific treatment available to cure Salla disease. However, therapy can be directed towards managing or controlling symptoms.
Symptoms and Signs:
In the first months of life of affected babies, nystagmus, hypotomia, and cognitive impairment can occur. In severe cases, affected children never learn to walk and comprehend language. However, most patients do acquire language, eventually learn to walk, and have normal life expectancy.
In general, muscular hypotonia and slowly progressive neurologic deterioration present at 6-9 months of age. Clumsiness and mental retardation may begin at 12 to 18 months. In the second decade of life, a more distinctive physical decline may be observed, including ataxia, psychomotor deterioration, enlarged storage lysosomes, and elevated sialic acid in the urine.
Causes:
Salla disease is a genetic disorder caused by mutations in chromosome 6, particularly in the gene SLC17A5. It is inherited via the autosomal recessive trait.
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