Marinesco-Sjogren syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 31430
ICD10 =
ICD9 =
ICDO =
OMIM = 248800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D013132

Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.

Presentation

It 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.

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, [cite journal |author=Senderek J, et al. |title=Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy |journal=Nat Genet |volume=37 |issue=12 |pages=1312–4 |year=2005 |pmid=16282977 |doi=10.1038/ng1678] [cite journal |author=Anttonen A, et. al |title=The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone |journal=Nat Genet |volume=37 |issue=12 |pages=1309–11 |year=2005 |pmid=16282978 |doi=10.1038/ng1677] 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.

Treatment

Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. Hormone replacement therapy is needed if hypogonadism is present.

Eponym

It is named for Georges Marinesco and Karl Sjögren. [WhoNamedIt|synd|1676]

References

External links

*
* [http://www.marinesco-sjogren.org Marinesco-Sjogren Syndrome Support Group]


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Marinesco–Sjögren syndrome — Marinescu Sjögren syndrome Classification and external resources OMIM 248800 DiseasesDB 31430 MeSH …   Wikipedia

  • Marinesco-Sjogren syndrome — A genetic disorder characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation. The disease is usually evident at birth because of… …   Medical dictionary

  • Syndrome de Marinesco-Sjogren — Syndrome de Marinesco Sjögren Syndrome de Marinesco Sjögren Autre nom Aucun Référence MIM …   Wikipédia en Français

  • Syndrome de Marinesco-Sjögren — Référence MIM 248800 Transmission Récessive Chromosome 5q31 Gène SIL1 Empreinte parentale Non …   Wikipédia en Français

  • síndrome de Marinesco-Sjögren — Eng. Marinesco Sjögren syndrome Síndrome caracterizado por oligofrenia, catarata congénita, ataxia cerebelar, amiotrofia neurógena y degeneración pigmentaria de retina …   Diccionario de oftalmología

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Sjögren — Henrik C., Swedish ophthalmologist, 1899–1986. See S. disease, S. syndrome, Gougerot S. disease. Torsten, Swedish physician, 1859–1939. See S. Larsson syndrome, Torsten S. syndrome, Marinesco S. syndrome …   Medical dictionary

  • Marinesco — Georges, Roumanian neurologist, 1863–1938. See M. succulent hand, M. Garland syndrome, M. Sjögren syndrome …   Medical dictionary

  • Karl Sjögren — Karl Gustaf Torsten Sjögren was a physician who workred in Sweden. [WhoNamedIt|doctor|1609] Sjögren Larsson syndrome is named for him (along with Tage Larsson). [WhoNamedIt|synd|1678] cite journal |author=SJOGREN T, LARSSON T |title=Oligophrenia… …   Wikipedia

  • Noonan syndrome — Classification and external resources A 12 year old female with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. ICD 10 Q …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.