Here's a simple way to remember key facts about the Lysosomal Storage diseases:
Read more: Lysosomal Storage Diseases
“pro” "geras" the Greek words for “before” “old age”
Read more: Progeria Facts #1
Here's some key facts and a good video about happiness from a 17 year old adolescent with progeria:
Video Source: TedxMidAtlantic 2013
Table comparing Progeria vs Werner Syndrome
In the movie "Jack", Robbin Williams plays a 10-year-old boy with adult progeria:
"Robbin Williams stars as a mischievous 10-year-old who acts like any other boy his age, except he's in a grown-up's body."
Watch the trailor for the movie "Jack" below and notice that they make a minor mistake. The doctor says that "His cells are developing at 4 times the normal rate" but he should have said that his cells are aging at a faster rate!
Quote from Jack's final Graduation speech:
"But I say to you, "Hey, look at me." Please, don't worry so much, 'cause in the end none of us have very long on this earth. Life is fleeting. And if you're ever distressed, cast your eyes to the summer sky, when the stars are strung across the velvety night, and when a shooting star streaks through the blackness turning night into day -- make a wish think of me. And make your life spectacular. I know I did." - Jack
Here's a comparison of Progeria and Werners syndrome which are both characterized by premature aging.
Read more: Progeria vs Werner Syndrome
Read more: Genetics Photo Quiz 1
A neurocutaneous syndrome (Phakomatosis) that is caused by a sporadic congenital error in the development of the ectoderm (skin and CNS) and mesoderm (blood vessels) resulting in angiomas of the face and brain.
Characteristic features include:
A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome.
Pathology of the Stars:
Former President of the Soviet Union, Mikhail Gorbachev has a port-wine stain (nevus flammeus) on his forhead.
Photo Attribution: RIA Novosti archive, image #850809 / Vladimir Vyatkin / CC-BY-SA 3.0
Here's a neat way to remember some of the key features of Tuberous Sclerosis:
Read more: Tuberous Sclerosis Mnemonic
Here's a way to use Arabic to remember the key points of the Lynch Syndrome:
Here's how to remember the chromosome number for autosomal dominant polycystic kidney disease and Polyposis:
Read more: Barone Mnemonic: Chromosome Numbers
Read more: Barone Mnemonic: Genomic Imprinting
What's so fascinating about the inheritance of this disorder?
Read more: MItochondrial Disorders
Here are some of the most important chromosome associations that you should know for boards and wards!:
Read more: Chromosome Cheatsheet
Here's a way to use the "name" to remember some important features of Marfans Syndrome:
Read more: BaroneMnemonic: Marfan Syndrome
Here's a cool way for football fans to remember some of the features of Edwards Syndrome by using Peyton Manning!
Read more: BaroneMnemonic: Edwards Syndrome
Here's how to remember some important features of this trisomy:
Read more: Barone Mnemonic: Patau
Here's a way to remember some important features of Patau Syndrome (Trisomy 13) using the word "Microcephaly":
Read more: Barone Video Mnemonic: Patau Syndrome
Read more about the features of Rett Syndrome at the NINDS.
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