Salla disease
Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
is_a
MONDO:0019366
free sialic acid storage disease
is_a
SD
related
Salla disease
exact
sialic acid storage disease
exact
SPAC11D3.18c SPCC417.10 SPBC2G2.01c SPAC1039.04 SPBC460.05 SPBPB10D8.01 SPCPB1C11.03 SPAC1002.16c SPCC757.13 SPBC1683.12 SPBC1773.15