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With the recent launch of our new website, we are refining all of our disease definitions. Please check back again in a couple of days if you do not see the definition for the disease you are looking for. Or, do not hesitate to contact us directly by using our webform or by sending an email to [email protected].
A
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uh-kyoot dih-sem-uh-neyt-ed en-sef-uh-loh-mahy-uh-lahy-tis
Acute Disseminated Encephalomyelitis (ADEM) is a demylelinating diseases, most commonly occurring after an acute bacterial or viral infection or, less commonly, following the vaccination for measles, mumps, and rubella. An autoimmune attack upon the nervous system causes widespread inflammation in the brain and spinal cord that damages myelin.
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al-ig-zahn-der dih-zeez
Alexander disease is a progressive, genetic, and fatal brain disorder that most commonly occurs in children. It leads to death usually within the first decade.
Alexander disease is classified as one of the leukodystrophies, or white matter diseases, causing abnormalities in myelin.
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eyn-juhl-man sin-drohm
Angelman Syndrome is a genetic disorder that causes developmental delay and neurological problems. Angelman Syndrome is due in most cases to a chromosome deficiency involving loss of material from chromosome region 15q12. The deficient chromosome is passed on from the mother.
Deletion of chromosome region 15q12 causes both Angelman Syndrome and a totally different disorder called Prader-Willi Syndrome. While the deleted chromosome is of maternal origin in Angelman Syndrome, it is the paternal chromosome that is partially deleted in the Prader-Willi Syndrome.
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uh-tak-see-uh tel-an-je-ek-ta-zha
Ataxia-telangiectasia (A-T) is a rare, progressive neurodegenerative genetic disease that becomes evident in early childhood, usually in the first few years of life. A-T causes degeneration in the part of the brain that controls motor movements and speech. Some children will develop normally the first 3-5 years before regressing and exhibiting difficulty in walking or standing without support.
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aw-tiz-uhm
Autism is a developmental disorder that appears in the first 3 years of life, and affects the brain’s normal development of social and communication skills. Autism is a physical condition linked to abnormal biology and chemistry in the brain. The exact causes of these abnormalities remain unknown, but this is a very active area of research and there are probably a combination of factors that lead to autism.
C
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suh-ree-bruhl pawl-zee
Cerebral Palsy, CP for short, refers to a group of disorders that affect different motor functions resulting in physical disabilities limiting body movement and muscle coordination. CP is non-progressive, which means the physical disabilities will not get worse over time. While CP affects muscle control and body movement, the root of the problem is not with the muscles or nerves themselves.
E
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ep-uh-lep-see
Epilepsy is a spectrum of brain disorders ranging from very mild or benign to disabling and life-threatening.
Epilepsy occurs when nerve cells in the brain fire electrical impulses at a rate of up to four times higher than normal. This causes a sort of electrical storm in the brain, known as a seizure. A pattern of repeated seizures (two or more) is referred to as epilepsy. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy.
F
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feet-l al-kuh-hawl sin-drohm
Fetal Alcohol Syndrome (FAS) is the sum total of the damage done to the child before birth as a result of the mother drinking alcohol during pregnancy.
No amount of alcohol has been proven to be safe during pregnancy. Women who are or may become pregnant are therefore strongly advised to avoid alcohol. Even light drinking (less than three alcoholic drinks per week) during the first trimester of pregnancy has been associated with memory and learning problems.
H
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Hi-dran-en-sef-uh-lee
Hydranencephaly (or hydroanencephaly) is a congenital condition in which the brain’s cerebral hemispheres are absent to varying degrees and the resulting empty cranial cavity is filled with cerebrospinal fluid. Hydranencephaly is one of several types of cephalic disorders. These disorders derive from either damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero.
M
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med twen-tee-three jeen dee-fekt
MED23 gene defect, also known as autosomal recessive nonsyndromic mental retardation-18, is a genetic neurological condition characterized by intellectual delays.
It is autosomal and recessive, meaning that both parents carry some mutation on the MED23 gene and have a 25% chance of passing this gene onto their children.
There are two families known to exist worldwide- one in Algeria where five siblings are affected, and a pair of brothers in the United States.
P
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pit hop-kinz sin-drohm
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder resulting from a mutation of the TCF4 gene or a deletion in the region of the 18th chromosome where the TCF4 gene is located. TCF4 is a transcription factor, so mutations or deletions in this region disrupt the body’s ability to carry out normal nervous system development and function resulting in developmental delay and intellectual disability.
S
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sahn-fil-ee-poh sin-drohm
Sanfilippo Syndrome is the most common disorder of mucopolysaccharide metabolism and also known as Mucopolysaccharidosis Type III (MPS III).
T
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traw-mat-ik breyn in-juh-ree
Traumatic brain injury (TBI), or intracranial injury, is an acquired condition that occurs after a sudden and traumatic blow to the head. The force of impact does not necessarily need to be severe to be traumatic and cause significant injury. Some TBIs are considered penetrating injures, when an object pierces the skull and fragments enter the brain directly. In addition to direct impact injuries, when the head collides directly with an object, TBI can be caused by sudden acceleration (or deceleration), causing the brain to bounce inside the skull.