User:Corymarkell/sandbox
MASA Syndrome
[edit]What does MASA stand for
[edit]MASA stands for Mental retardation, aphasia, shuffling gait, and adducted thumbs (syndrome)
What MASA Syndrome is
[edit]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.[1]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.[2] Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement.[3] Adducted thumbs, characterized by cleft palate, microcephaly, and dys‐myelination.[4] Aphasia, which is when someone losses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled[5], 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.[6] MASA syndrome is developed over time, most times it’s developed even before birth.
What is it caused by
[edit]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. [7]
*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.[8]
- ^ "MASA Syndrome (Medical Condition)". youtube. May 13 2015.
{{cite web}}: Check date values in:|date=(help)CS1 maint: url-status (link) - ^ "Hydrocephalus: Causes, symptoms, and treatments". www.medicalnewstoday.com. Retrieved 2020-04-27.
- ^ Gillis, G. B. (2010-02-12). "CONTRACTING MUSCLES STIFFEN THEIR APONEUROSES". Journal of Experimental Biology. 213 (5): vi–vi. doi:10.1242/jeb.036442. ISSN 0022-0949.
- ^ Fitch, Naomi; Levy, Edith P. (1975). "Adducted thumb syndromes". Clinical Genetics. 8 (3): 190–198. doi:10.1111/j.1399-0004.1975.tb01493.x. ISSN 1399-0004.
- ^ "Seizures - Symptoms and causes". Mayo Clinic. Retrieved 2020-04-27.
- ^ "Agenesis of Corpus Callosum". NORD (National Organization for Rare Disorders). Retrieved 2020-04-27.
- ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "MASA Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, The McGraw-Hill Companies, retrieved 2020-04-27
- ^ "Spasticity – Causes, Symptoms and Treatments". www.aans.org. Retrieved 2020-04-27.
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