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MASA syndrome

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MASA syndrome
Classification and external resources
OMIM 303350

MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome,[1] is a rare X-linked recessive[2] neurological disorder.


SymptomsEdit

The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.[3] A more suitable name for this syndrome is "L1 syndrome". The disorder has been associated with mutations in the L1CAM gene. This syndrome has severe symptoms in males, while females are carriers because only one X-chromosome is affected. Affected males can't reproduce so their X-Chromosome isn't inherited.[4] (The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.)

DiagnosisEdit

A prenatal diagnostic is possible and very reliable when mother is carrier of the syndrome. First, it's necessary to determine the fetus' sex and, then, study X-chromosomes. In both cases, the probability to transfer the X-chromosome affected to the descendants is 50%. Males descendants will express the symptoms of the syndrome but females will be carriers. [5]

ReferencesEdit

  1. OMIM 303350
  2. PMID 2737668 (PMID 2737668)
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  3. Bianchine JW, Lewis RC (1974). The MASA syndrome: a new heritable mental retardation syndrome. Clin. Genet. 5 (4): 298–306.
  4. Ruiz JC, Cuppens H, Legius E, et al. (July 1995). Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. Journal of medical genetics 32 (7): 549–52.
  5. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. European Journal of Human Genetics 3 (5): 273–84.

External linksEdit


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