Salla disease

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Salla disease
Other namesSialic acid storage disease or Finnish type sialuria[1]
Sialic acid
SpecialtyNeurology, endocrinology Edit this on Wikidata

Salla disease (SD) is an

Finnish Lapland and is one of 40 Finnish heritage diseases
.

Approximately ~250 individuals with FSASD have been reported in the literature, of which the majority (> 160 cases) are of Finnish or Swedish ancestry. Individuals with FSASD may go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of the disease in the general population.[citation needed]

Signs and symptoms

Affected infants appear normal at birth but may develop symptoms during the first year of life. Individuals with Salla disease may present with

myelination.[5]

Approximately two-thirds of children with mild FSASD eventually learn to walk. Some degree of speech impairment is usually present. Affected infants may learn single words or small sentences, but this ability may be lost as they age. The ability to produce speech is affected more severely than the ability to understand speech. Affected children exhibit some degree of cognitive impairment as well.

Genetics

Salla disease has an autosomal recessive pattern of inheritance.

SD is caused by a

N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.[citation needed
]

The disease is inherited in an autosomal recessive manner.

carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed
]

Diagnosis

A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid.[7] Prenatal testing is also available for known carriers of this disorder.[citation needed]

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.[citation needed]

Prognosis

Individuals with Salla disease usually survive into adulthood.[8]

See also

References

  1. ^ Online Mendelian Inheritance in Man (OMIM): 604369
  2. ^
    S2CID 20586318
    .
  3. PMID 420628.[permanent dead link
    ]
  4. S2CID 39839325
    .
  5. PMID 12885332
    .
  6. ^ Online Mendelian Inheritance in Man (OMIM): 604322
  7. PMID 15172001
    .
  8. PMID 20301643
    , retrieved 2023-04-24

External links
Retrieved from "https://en.wikipedia.org/w/index.php?title=Salla_disease&oldid=1177155260"