Marinesco-Sjogren Syndrome
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Contents |
[edit] Name of Condition
Marinesco-Sjogren Syndrome (MSS)
[edit] Definition
[edit] Description, Signs and Symptoms
MSS causes cerebellar ataxia (balance and coordination problems), cataracts in early childhood, and muscle weakness. Small stature, mild to severe mental retardation and dysarthria (slow, imprecise speech) are usually present. Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur. Muscle weakness is progressive, but life expectancy is near normal.
[edit] Inheritance
Autosomal Recessive
[edit] Demographics
Very rare except in isolated populations such as one in Southern Alabama. Carrier rate of about 1/100 in Scandinavia.
[edit] Diagnosis
Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy.
It can be associated with mutations of the SIL1 gene,[1][2] and a mutation can be found in about 50% of cases.
Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjogren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
[edit] Treatment and Management
Physical, occupational, and speech therapy. Special education.
[edit] Prognosis
Life expectancy is near normal. Progressive weakness in adulthood.
[edit] Resources
[1] Marinesco-Sjogren Syndrome Support Group
[edit] References
(1) Senderek J, et al. (2005). "Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet 37 (12): 1312-4. PMID 16282977.
(2) Anttonen A, et. al (2005). "The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat Genet 37 (12): 1309-11. PMID 16282978
