| 词条 | MASA syndrome |
| 释义 |
| synonyms = Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome | name = MASA syndrome | image = X-linked recessive.svg | caption = This condition is inherited in an x-linked recessive manner | pronounce = | field = Neurology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = |alt=}}MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum.[1] Signs and symptomsThe acronym "MASA" stands for the four main signs and symptoms associated with the syndrome:(1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs.[2] Affected males may also have a variable dilatation(widening) of the third heart ventricle.[2] GeneticsMASA syndrome has been associated with variants in the L1CAM gene.[1] The symptoms are typically more intensive in males, due to the fact that males inherit only one X-chromosome. DiagnosisA diagnosis can be made when the clinical features have been identified, mainly the four common signs and symptoms. This can then be confirmed by single-gene sequencing, where the L1CAM gene is examined for any possible variations.[2] A diagnostic test prior-to-birth is possible and very reliable when the mother is carrier of the gene. First, it's necessary to determine the fetus' sex and then study the X-chromosomes inherited from the mother. The probability of transferring the variant X-chromosome to the descendants is 50% regardless of the sex of the fetus (as illustrated by the figure). Male descendants who inherit the varied X-chromosome will express the symptoms of the syndrome, on the other hand females who inherit the varied X-chromosome will become carriers of the mutated gene and will not show any symptoms or clinical features of the syndrome.[3] Refere[4]nces1. ^1 {{Cite web|url=https://ghr.nlm.nih.gov/condition/l1-syndrome|title=L1 syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-03-13}} 2. ^1 2 {{Citation|last=Stumpel|first=Connie|title=L1 Syndrome|date=1993|url=http://www.ncbi.nlm.nih.gov/books/NBK1484/|work=GeneReviews®|editor-last=Adam|editor-first=Margaret P.|publisher=University of Washington, Seattle|pmid=20301657|access-date=2019-03-13|last2=Vos|first2=Yvonne J.|editor2-last=Ardinger|editor2-first=Holly H.|editor3-last=Pagon|editor3-first=Roberta A.|editor4-last=Wallace|editor4-first=Stephanie E.}} 3. ^{{cite journal |vauthors=Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ |title=CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1 |journal=European Journal of Human Genetics |volume=3 |issue=5 |pages=273–84 |year=1995 |pmid=8556302 }} 4. ^{{Cite web|url=http://omim.org/entry/303350#9|title=OMIM Entry - # 303350 - MASA SYNDROME|website=omim.org|access-date=2019-03-20}} External links{{Medical resources| DiseasesDB = | ICD10 = G11.4 | ICD9 = | ICDO = | OMIM = 303350 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C536029 | GeneReviewsNBK = NBK1484 | GeneReviewsName = L1 Syndrome | Orphanet = 2466 }}
4 : X-linked recessive disorders|Rare syndromes|Syndromes with mental retardation|Syndromes affecting the nervous system |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。