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Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe with symptoms that start in the first year of life and progress slowly through adulthood. The intermediate severe form is less severe than the infantile form, but more severe than Salla disease.
General symptoms of free sialic acid storage diseases include developmental
delay, low muscle tone, abnormal movements, and seizures. They are
progressive, and symptoms get worse over time. All forms of free sialic acid
storage disease are caused by genetic changes (mutations) in the
SLC17A5 gene and are inherited in an
autosomal recessive manner. Free sialic acid storage disease can be diagnosed
by laboratory tests looking for sialic acid in the urine, imaging studies of
the brain, and genetic testing. Treatment is based on the symptoms and
maintaining quality of life. People with the least severe form of this disease
(Salla disease) can live into adulthood.
Source: GARD Last updated on 05-01-20
Salla disease is the mildest form of the free sialic acid storage disorders. The specific symptoms and severity of the disorder can vary from one individual to another. Affected infants typically appear normal at birth but usually develop poor muscle tone (hypotonia) during the first year of life. Other signs and symptoms may include rapid, involuntary eye movements (nystagmus); difficulty coordinating movements (ataxia); seizures; muscle spasticity; developmental delays; and intellectual disability. In some cases, individuals may not develop neurological signs and symptoms until later in childhood. Affected individuals usually have some degree of speech impairment, however, the ability to speak is typically impaired more than the ability to understand speech. Some affected infants may learn to speak or walk, but may lose these abilities as they age. Individuals may experience a gradual coarsening of certain facial features.
Last updated on 05-01-20
Salla disease can cause life-threatening complications at any age. Life expectancy appears to be shortened, although there have been affected individuals who have lived into their seventies.
Last updated on 05-01-20
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