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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Salla disease


Other Names for this Disease

  • SD
  • Sialuria, Finnish type
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Symptoms

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What are the signs and symptoms of Salla disease?

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.[1] 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.[2] 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.[1][2]
Last updated: 10/17/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Salla disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the foot 90%
Aplasia/Hypoplasia of the abdominal wall musculature 90%
Cognitive impairment 90%
Gait disturbance 90%
Hypertonia 90%
Incoordination 90%
Muscular hypotonia 90%
Nystagmus 90%
Abnormal facial shape 50%
Abnormality of skin pigmentation 50%
Abnormality of the upper limb 50%
Ascites 50%
Chorea 50%
Hydrops fetalis 50%
Neurological speech impairment 50%
Ocular albinism 50%
Oculomotor apraxia 50%
Recurrent respiratory infections 50%
Reduced bone mineral density 50%
Seizures 50%
Skeletal dysplasia 50%
Skin ulcer 50%
Hepatomegaly 7.5%
Nephrotic syndrome 7.5%
Proteinuria 7.5%
Splenomegaly 7.5%
Abnormality of metabolism/homeostasis -
Ataxia -
Athetosis -
Autosomal recessive inheritance -
Delayed speech and language development -
Dysarthria -
Exotropia -
Growth delay -
Inability to walk -
Intellectual disability -
Muscular hypotonia -
Nystagmus -
Seizures -
Spasticity -
Thickened calvaria -
Vacuolated lymphocytes -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Free Sialic Acid Storage Disorders. NORD. April 28, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1235/viewAbstract. Accessed 10/14/2011.
  2. David Adams, William A Gahl. Free Sialic Acid Storage Disorders. GeneReviews. July 3, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1470/. Accessed 10/14/2011.


Other Names for this Disease
  • SD
  • Sialuria, Finnish type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.