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Salla disease(SD)

MedGen UID:
203368
Concept ID:
C1096903
Disease or Syndrome
Synonyms: Free sialic acid storage disease; Free Sialic Acid Storage Disorders; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); NANA storage disease; SD; Sialic acid storage disease; Sialuria, Finnish type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Adult sialic acid storage disease (87074006); Salla disease (87074006); Sialuria, Finnish type (87074006)
 
Gene (location): SLC17A5 (6q13)
OMIM®: 604369
Orphanet: ORPHA309334

Disease characteristics

Excerpted from the GeneReview: Free Sialic Acid Storage Disorders
The allelic disorders of free sialic acid metabolism – Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD) ‒ are neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The mildest phenotype is Salla disease, which is characterized by normal appearance and neurologic findings at birth followed by slowly progressive neurologic deterioration resulting in mild to moderate psychomotor retardation, spasticity, athetosis, and epileptic seizures. The most severe phenotype is ISSD, characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood. [from GeneReviews]
Authors:
David Adams  |  William A Gahl   view full author information

Additional descriptions

From OMIM
Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).  http://www.omim.org/entry/604369
From GHR
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood.Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood.People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity.  https://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease

Clinical features

Athetosis
MedGen UID:
2115
Concept ID:
C0004158
Sign or Symptom
A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
A response indicating that an individual is or was unable to walk.
Vacuolated lymphocytes
MedGen UID:
332307
Concept ID:
C1836855
Finding
The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
A deficiency or slowing down of growth pre- and postnatally.
Global developmental delay
MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Salla disease in Orphanet.

Recent clinical studies

Etiology

Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SR, Sillanpää ML, Aula PP
Pediatr Neurol 2002 Apr;26(4):267-73. PMID: 11992753
Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P
J Child Neurol 2001 Oct;16(10):775-7. doi: 10.1177/088307380101601015. PMID: 11669356
Varho T, Komu M, Sonninen P, Holopainen I, Nyman S, Manner T, Sillanpää M, Aula P, Lundbom N
Neurology 1999 May 12;52(8):1668-72. doi: 10.1212/wnl.52.8.1668. PMID: 10331697
Sonninen P, Autti T, Varho T, Hämäläinen M, Raininko R
AJNR Am J Neuroradiol 1999 Mar;20(3):433-43. PMID: 10219409
Chigorno V, Valsecchi M, Nicolini M, Sonnino S
Indian J Biochem Biophys 1997 Feb-Apr;34(1-2):150-6. PMID: 9343943

Diagnosis

Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S
Pediatr Neurol 2017 Sep;74:87-91.e2. Epub 2017 Jun 1 doi: 10.1016/j.pediatrneurol.2017.05.022. PMID: 28662915
Couce ML, Macías-Vidal J, Castiñeiras DE, Bóveda MD, Fraga JM, Fernández-Marmiesse A, Coll MJ
Eur J Med Genet 2014 Sep;57(9):527-31. Epub 2014 Jun 30 doi: 10.1016/j.ejmg.2014.06.005. PMID: 24993898
Coker M, Kalkan-Uçar S, Kitiş O, Uçar H, Gökşen-Simşek D, Darcan S, Gökben S
Turk J Pediatr 2009 Nov-Dec;51(6):605-9. PMID: 20196397
Alajoki L, Varho T, Posti K, Aula P, Korhonen T
Dev Med Child Neurol 2004 Dec;46(12):832-7. PMID: 15581157
Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM
Clin Genet 2002 Jun;61(6):443-7. PMID: 12121352

Therapy

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P
Am J Hum Genet 1994 Jun;54(6):1042-9. PMID: 8198127Free PMC Article

Prognosis

Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P
J Child Neurol 2001 Oct;16(10):775-7. doi: 10.1177/088307380101601015. PMID: 11669356
Sonninen P, Autti T, Varho T, Hämäläinen M, Raininko R
AJNR Am J Neuroradiol 1999 Mar;20(3):433-43. PMID: 10219409
Schleutker J, Sistonen P, Aula P
J Med Genet 1996 Jan;33(1):36-41. doi: 10.1136/jmg.33.1.36. PMID: 8825046Free PMC Article
Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG
Eur J Pediatr 1992 Aug;151(8):590-5. PMID: 1505579
Ylitalo V, Hagberg B, Rapola J, Månsson JE, Svennerholm L, Sanner G, Tonnby B
Neuropediatrics 1986 Feb;17(1):44-7. doi: 10.1055/s-2008-1052498. PMID: 3960283

Clinical prediction guides

Coker M, Kalkan-Uçar S, Kitiş O, Uçar H, Gökşen-Simşek D, Darcan S, Gökben S
Turk J Pediatr 2009 Nov-Dec;51(6):605-9. PMID: 20196397
Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P
J Child Neurol 2001 Oct;16(10):775-7. doi: 10.1177/088307380101601015. PMID: 11669356
Schleutker J, Sistonen P, Aula P
J Med Genet 1996 Jan;33(1):36-41. doi: 10.1136/jmg.33.1.36. PMID: 8825046Free PMC Article
Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P
Am J Hum Genet 1995 Oct;57(4):893-901. PMID: 7573051Free PMC Article
Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L
Genomics 1995 May 20;27(2):286-92. doi: 10.1006/geno.1995.1044. PMID: 7557994

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