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What does MASA stand for
MASA stands for Mental retardation, aphasia, shuffling gait, and adducted thumbs (syndrome)

What MASA Syndrome is
MASA syndrome, a rare X-linked recessive neurological disorder, is a hereditary spastic paraplegia, a paraplegia known to increase stiffness spasicity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. It is defined by 6 factors. Hydrocephalus, also called water in the brain, a condition where there is an abnormal build up of CSF (cerebrospinal fluid) in the cavities (ventricles) of the brain. The build-up is often caused by an obstruction that prevents proper fluid drainage. Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. Adducted thumbs, characterized by cleft palate, microcephaly, and dys‐myelination. Aphasia, which is when someone losses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled, disturbance in the brain. Lastly, agenesis of the orpus callosum, a rare disorder that occurs at birth. It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. MASA syndrome is developed over time, most times it’s developed even before birth.

What is it caused by
It is caused by a malfunction in a mutation in L1-CAM, which is an axonal glycoprotein that is essential for normal development of the central and peripheral nervous systems during the fetal period and postnatally.

* Spasticity is a condition in which muscles stiffen or tighten, preventing normal fluid movement. The muscles remain contracted and resist being stretched, thus affecting movement, speech and gait.