245:
221:
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
510:
Huizing, Marjan; Hackbarth, Mary E.; Adams, David R.; Wasserstein, Melissa; Patterson, Marc C.; Walkley, Steven U.; Gahl, William A.; Adams, David R.; Dobrenis, Kostantin; Foglio, Jessica; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary; Huizing, Marjan; Lek, Monkol (2021-04-20).
229:) affect males and females in equal numbers. The worldwide prevalence of FSASD is estimated at less than 1 per 1,000,000 individuals. Higher estimated prevalence rates occur in the Salla region of Finland and in other Scandinavian countries.
186:) affect males and females in equal numbers. The worldwide prevalence of FSASD is estimated at less than 1 per 1,000,000 individuals. Higher estimated prevalence rates occur in the Salla region of Finland and in other Scandinavian countries.
718:
302:(chromosome 6 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
75:
hepatosplenomegaly; hypotonia; failure to thrive; developmental delays; cognitive deficits; seizures; skeletal abnormalities; dysplasia; metaphyses; clubbed feet; abnormally short thigh bones; dysplasia; nystagmus;
236:
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.
1013:
829:
1555:
210:. The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The
352:
Some individuals with mild FSASD may not develop symptoms until later in childhood when a variety of neurological findings become apparent. These include
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376:
226:
183:
364:). Some individuals who previously developed the ability to walk or talk may lose these skills (regression). Some individuals may experience a gradual
846:
1401:
1164:
1320:
194:
Affected infants appear normal at birth but may develop symptoms during the first year of life. Individuals with Salla disease may present with
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1006:
330:
There is no cure for Salla disease. Treatment is limited to controlling the symptoms of this disorder. Anti-convulsant medication may control
1439:
870:
822:
807:
733:
637:
396:
318:
is also available for known carriers of this disorder. The diagnosis is ultimately confirmed by identifying genetic mutation(s) in the
298:
The disease is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an
163:
in a family from northern
Finland. Salla refers to the area where the affected family resided. It was first described in 1979, after
999:
46:
344:. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
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902:
560:
Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Simila S (1988). "Neuropathology of Salla disease".
175:. The term Salla disease is now used in the literature not only for FSASD cases with the Finnish founder variant in
865:
842:
655:"Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity"
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838:
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A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid.
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episodes. Physical therapists can assist an affected individual to build muscle strength and coordination.
1545:
1104:
918:
417:
Aula N, A. P.; Aula, P. (August 2006). "Prenatal diagnosis of free sialic acid storage disorders (SASD)".
365:
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1411:
1363:
1026:
969:
991:
653:
Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004).
232:
Approximately ~300 individuals with FSASD have been reported in the literature, of which the majority (
306:
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
268:
222:
ability to understand speech. Affected children exhibit some degree of cognitive impairment as well.
207:
195:
141:
1169:
935:
585:
442:
70:
1278:
84:
Affected infants appear normal at birth but may develop symptoms during the first year of life.
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Aula, P; Autio, S; Raivio, Ko; Rapola, J; Thodén, Cj; Koskela, Sl; Yamashina, I (Feb 1979).
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512:
292:
179:, but also for any mild FSASD cases, independent of the mutation or region of origin.
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gene by molecular genetic testing. This testing is available on a clinical basis.
749:
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923:
779:
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288:
215:
53:
760:
616:
356:, involuntary muscles spasms that result in slow, stiff movements of the legs (
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Genetic counseling is recommended for affected individuals and their families.
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360:), and repetitive, involuntary, writhing movements of the arms and legs (
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36:
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Strehle EM (2003). "Sialic acid storage disease and related disorders".
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Information on current clinical trials is posted on the
Internet at
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Salla disease has an autosomal recessive pattern of inheritance.
995:
811:
211:
696:
GeneReview/NIH/UW entry on Free Sialic Acid
Storage Disorders
202:, and may have difficulty coordinating voluntary movements (
137:(SD) or mild Free Sialic Acid Storage Disease (FSASD) is an
513:"Free sialic acid storage disorder: Progress and promise"
700:
1493:
1374:
1264:
1034:
961:
911:
879:
858:
770:
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462:""Salla disease": a new lysosomal storage disorder"
124:
114:
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88:
80:
69:
59:
26:
21:
155:. Salla disease (also referred to as Finnish-type
1007:
823:
8:
1014:
1000:
992:
830:
816:
808:
701:
377:Infantile free sialic acid storage disease
227:Infantile Free Sialic Acid Storage Disease
184:Infantile Free Sialic Acid Storage Disease
44:
18:
1507:Mitochondrial pyruvate carrier deficiency
536:
206:), reduced muscle tone and strength, and
1402:Recessive multiple epiphyseal dysplasia
1165:Congenital endothelial dystrophy type 2
389:
159:, OMIM#604369) was first reported as a
110:clinical evaluation and genetic testing
412:
410:
408:
7:
1556:Membrane transport protein disorders
903:Pseudo-Hurler polydystrophy (ML III)
871:Congenital disorder of glycosylation
481:10.1001/archneur.1979.00500380058006
638:Online Mendelian Inheritance in Man
397:Online Mendelian Inheritance in Man
279:that transports the charged sugar,
785:Free Sialic Acid Storage Disorders
14:
1551:Glycoprotein metabolism disorders
1212:Thyroid dyshormonogenesis type 1
147:characterized by early physical
1389:Multiple epiphyseal dysplasia 4
1184:Glucose-galactose malabsorption
881:Post-translational modification
128:<1 per 1,000,000 individuals
366:coarsening of facial features.
1:
1541:Autosomal recessive disorders
1321:Allan–Herndon–Dudley syndrome
1240:Lysinuric protein intolerance
100:mutations in the SLC17A5 gene
1469:Acrodermatitis enteropathica
1119:Arterial tortuosity syndrome
529:10.1016/j.neulet.2021.135896
1151:Hereditary elliptocytosis 4
671:10.1016/j.ymgme.2004.03.001
31:Sialic acid storage disease
1572:
1147:Hereditary spherocytosis 4
866:Dolichol kinase deficiency
839:Lysosomal storage diseases
617:10.1089/109065703322146795
277:lysosomal membrane protein
214:shows arrested or delayed
161:lysosomal storage disorder
1516:
1407:Atelosteogenesis, type II
173:Finnish heritage diseases
145:lysosomal storage disease
52:
43:
65:Neurology, endocrinology
1091:Fanconi-Bickel syndrome
847:carbohydrate metabolism
281:N-acetylneuraminic acid
271:. This gene codes for
153:intellectual disability
1105:Fructose malabsorption
919:Aspartylglucosaminuria
898:I-cell disease (ML II)
342:www.clinicaltrials.gov
287:. The mutation causes
283:(sialic acid), out of
249:
1521:solute carrier family
1483:African iron overload
1412:Diastrophic dysplasia
970:solute carrier family
469:Archives of Neurology
247:
1454:Von Gierke's disease
1335:Von Gierke's disease
517:Neuroscience Letters
208:cognitive impairment
167:, a municipality in
291:to build up in the
1170:Fuchs' dystrophy 4
936:Alpha-mannosidosis
771:External resources
574:10.1007/BF00687135
419:Prenatal Diagnosis
252:SD is caused by a
250:
190:Signs and symptoms
1528:
1527:
1293:Gitelman syndrome
1049:Episodic ataxia 6
989:
988:
981:Galactosialidosis
953:Schindler disease
941:Beta-mannosidosis
886:lysosomal enzymes
805:
804:
225:FSASD (Salla and
182:FSASD (Salla and
171:and is one of 40
132:
131:
106:Diagnostic method
16:Medical condition
1563:
1426:Pendred syndrome
1198:Renal glycosuria
1023:Genetic disorder
1016:
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851:Glycoproteinoses
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562:Acta Neuropathol
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465:(Free full text)
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316:Prenatal testing
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1394:Achondrogenesis
1370:
1279:Crohn's disease
1260:
1226:Hartnup disease
1077:De Vivo disease
1030:
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659:Mol Genet Metab
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169:Finnish Lapland
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1079:
1067:
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1065:
1053:
1052:
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1038:
1036:
1032:
1031:
1027:Solute carrier
1021:
1019:
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1011:
1004:
996:
987:
986:
984:
983:
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959:
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943:
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705:Classification
699:
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690:External links
688:
685:
684:
665:(2): 137–143.
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630:
611:(2): 113–121.
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568:(5): 481–490.
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425:(8): 655–658.
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1546:Rare diseases
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1350:Salla disease
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1199:
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1024:
1017:
1012:
1010:
1005:
1003:
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994:
982:
979:
976:
975:Salla disease
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964:
960:
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951:
949:
946:
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934:
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927:
925:
922:
920:
917:
916:
914:
910:
904:
901:
899:
895:
894:Mucolipidosis
892:
891:
889:
887:
882:
878:
872:
869:
867:
864:
863:
861:
857:
852:
848:
844:
843:Inborn errors
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68:
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55:
51:
47:
42:
39:
38:
35:Finnish type
32:
29:
25:
22:Salla disease
20:
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1500:
1475:
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1418:
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1356:
1349:
1342:
1327:
1313:
1299:
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1246:
1232:
1218:
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1190:
1176:
1157:
1139:
1125:
1111:
1097:
1083:
1069:
1055:
1041:
1025:, membrane:
974:
968:
930:mannosidosis
928:
789:
778:
754:
743:
732:
717:
662:
658:
648:
633:
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604:
598:
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475:(2): 88–94.
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351:
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297:
251:
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181:
176:
134:
133:
34:
30:
924:Fucosidosis
780:GeneReviews
289:sialic acid
216:myelination
198:as well as
81:Usual onset
54:Sialic acid
27:Other names
1535:Categories
1254:Cystinuria
1133:Cystinuria
948:Sialidosis
912:Catabolism
756:DiseasesDB
605:Genet Test
523:: 135896.
384:References
358:spasticity
266:chromosome
149:impairment
1519:see also
1029:disorders
859:Anabolism
489:0003-9942
362:athetosis
348:Prognosis
326:Treatment
310:Diagnosis
285:lysosomes
264:at human
200:hypotonia
196:nystagmus
142:recessive
139:autosomal
125:Frequency
116:Prognosis
61:Specialty
1456:, GSD-Ib
1337:, GSD-Ic
791:Orphanet
679:15172001
640:(OMIM):
625:12885332
590:39839325
547:33862140
447:20586318
439:16715535
399:(OMIM):
371:See also
354:seizures
300:autosome
254:mutation
240:Genetics
157:sialuria
120:variable
92:Lifelong
89:Duration
71:Symptoms
37:sialuria
1502:SLC54A1
1477:SLC40A1
1463:SLC39A4
1448:SLC37A4
1440:CDOG 2C
1434:SLC35C1
1420:SLC26A4
1397:type 1B
1383:SLC26A2
1358:SLC17A8
1344:SLC17A5
1329:SLC17A3
1315:SLC16A2
1301:SLC16A1
1287:SLC12A3
1273:SLC11A1
1220:SLC6A19
1159:SLC4A11
1113:SLC2A10
1063:SPATCCM
750:D029461
582:3287834
538:8175077
332:seizure
320:SLC17A5
269:6q14-15
262:located
258:SLC17A5
256:in the
177:SLC17A5
76:ataxia.
1364:DFNA25
1248:SLC7A9
1234:SLC7A7
1206:SLC5A5
1192:SLC5A2
1178:SLC5A1
1141:SLC4A1
1127:SLC3A1
1099:SLC2A5
1085:SLC2A2
1071:SLC2A1
1057:SLC1A4
1043:SLC1A3
796:309334
739:604369
677:
642:604322
623:
588:
580:
545:
535:
497:420628
495:
487:
445:
437:
401:604369
379:(ISSD)
273:sialin
260:gene,
204:ataxia
97:Causes
1494:51-60
1375:21-40
1265:11-20
962:Other
761:31935
728:E77.8
586:S2CID
443:S2CID
304:carry
293:cells
165:Salla
1307:HHF7
1035:1-10
745:MeSH
734:OMIM
675:PMID
621:PMID
578:PMID
543:PMID
493:PMID
485:ISSN
435:PMID
275:, a
234:>
151:and
884:of
845:of
719:ICD
667:doi
613:doi
570:doi
533:PMC
525:doi
521:755
477:doi
427:doi
212:MRI
33:or
1537::
896::
841::
794::
783::
759::
748::
737::
726::
723:10
673:.
663:82
661:.
657:.
619:.
607:.
584:.
576:.
566:75
564:.
541:.
531:.
519:.
515:.
491:.
483:.
473:36
471:.
467:.
441:.
433:.
423:26
421:.
407:^
295:.
218:.
1509:)
1505:(
1149:/
1015:e
1008:t
1001:v
977:)
973:(
853:)
849:(
831:e
824:t
817:v
721:-
711:D
681:.
669::
627:.
615::
609:7
592:.
572::
549:.
527::
499:.
479::
449:.
429::
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