X linked Mental Retardation Clasped Thum…

It is feasible that the main title of the report L1 Disorder is not the name you expected. Kindly examine the basic synonyms detailing to discover the alternative name(s) as well as problem community(s) covered by this rating.

Basic synonyms

  • L1 spectrum
  • L1 disease
  • MASA disorder
  • SPG1 (X-linked difficult genetic spastic paraplegia kind 1)
  • X-linked corpus callosum agenesis
  • X-linked hydrocephalus with constriction of the aqueduct of sylvius
  • HSAS, aqueductal constriction, X-linked

Problem Communities

  • None

General Conversation
L1 syndrome is an acquired, X-linked problem taking place in men that mainly influences the peripheral nervous system. The disease is primarily defined by hydrocephalus (raised fluid in the facility of the mind), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped to the hand), aphasia (problem with speaking), seizures, and also agenesis of the corpus callosum (underdeveloped or missing hooking up tissue in between the left as well as appropriate hemispheres of the human brain). Affected individuals have intellectual special needs in the light to moderate range. L1 disorder is caused by irregularities (mutations) in the L1CAM genetics, which affects about 1 in 30,000 men.

The acronym CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, abnormal paraparesis as well as hydrocephalus) disorder was originally recommended in 1995 by Dr. Erik Fransen to explain L1 syndrome yet is not utilized.

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