Lissencephaly
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LISSENCEPHALY
What is X-linked lissencephaly?
X-linked lissencephaly is a condition of abnormal brain development that mainly affects males, though females may be mildly affected. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. This abnormality can cause severe mental retardation and developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. People without any folds in the brain (agyria) typically have more severe symptoms.
There are at least two forms of X-linked lissencephaly. The first is characterized by lissencephaly only, and usually involves no other parts of the body. The second is lissencephaly with abnormal (ambiguous) genitalia. This form of X-linked lissencephaly is typically more severe, with seizures often beginning within the first day of life, and sometimes even before birth. In addition, affected males can have an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with this form of X-linked lissencephaly also can show a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum), low body temperature (hypothermia), and chronic diarrhea.
How common is X-linked lissencephaly?
The overall incidence of lissencephaly is estimated to be 1 in 85,000 individuals. The incidence of males with X-linked lissencephaly is unknown.
What genes are related to X-linked lissencephaly?
X-linked lissencephaly is caused by a mutation in either the DCX gene or the ARX gene. Mutations in the DCX gene cause isolated lissencephaly, which typically does not involve any other parts of the body. Mutations in the ARX gene can cause X-linked lissencephaly with ambiguous genitalia and other associated health issues. Both genes provide instructions for producing proteins that play a role in the development of the brain. The DCX protein, doublecortin, plays a role in the migration of nerve cells (neurons) to their proper location in the developing brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The ARX protein is also found in the pancreas and testes.
X-linked lissencephaly is seen primarily in males. Most females with a DCX mutation have a milder brain disorder called subcortical band heterotopia, or doublecortex. Females with an ARX mutation usually have some degree of mental retardation, epilepsy, and agenesis of the corpus callosum.
Read more about the ARX and DCX genes.
How do people inherit X-linked lissencephaly?
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
ABOVE IS THE DEFINITION OF A HANDICAP THAT AFFECTS MILLIONS THAT OUR GOVERNMENT NEITHER KNOWS FULLY ABOUT OR HAS TURNED A BLIND EYE TO.
INSURANCE COMPANIES DO NOT "PAY" FOR THIS DISABILITY AS THEY DO FOR AUTISM AND ANY OTHER FORMS OF DISABILITIES.
THOSE WHO SUFFER FROM THIS DISEASE (WITH ITS MANY LEVELS) AND THEIR FAMILIES HAVE AN UP HILL BATTLE TO DEAL WITH THE DAILY STRESS CAUSED BY THIS DISABILITY AND ARE EMOTIONALLY DRAINED. MANY CHILDREN WITH THIS DISABILITY ARE LUCKY TO GET PAST AGE 2 AND THE LONGEST KNOWN CASE THE MAXIMUM AGE WAS 24.
WE NEED THIS PETITION TO MAKE THE GOVERNMENT AWARE SO THAT THERE IS FUNDING FOR RESEARCH AND TO MAKE AWARE THAT THE INSURANCE COMPANIES NEED TO TREAT THIS LIKE ANY OTHER DISABILITY.
MANY FAMILIES NEED HELP WITH THIS AND ARE DOING IT ALL BY THEMSELVES!!!
IT COULD HAPPEN TO THE BEST OF FAMILIES!!!
PLEASE SIGN THIS PETITION SO WE CAN BEGIN TO HELP OUR CHILDREN AND OUR CHILDREN'S CHILDREN.
THANK YOU AND GOD BLESS
What is X-linked lissencephaly?
X-linked lissencephaly is a condition of abnormal brain development that mainly affects males, though females may be mildly affected. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. This abnormality can cause severe mental retardation and developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. People without any folds in the brain (agyria) typically have more severe symptoms.
There are at least two forms of X-linked lissencephaly. The first is characterized by lissencephaly only, and usually involves no other parts of the body. The second is lissencephaly with abnormal (ambiguous) genitalia. This form of X-linked lissencephaly is typically more severe, with seizures often beginning within the first day of life, and sometimes even before birth. In addition, affected males can have an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with this form of X-linked lissencephaly also can show a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum), low body temperature (hypothermia), and chronic diarrhea.
How common is X-linked lissencephaly?
The overall incidence of lissencephaly is estimated to be 1 in 85,000 individuals. The incidence of males with X-linked lissencephaly is unknown.
What genes are related to X-linked lissencephaly?
X-linked lissencephaly is caused by a mutation in either the DCX gene or the ARX gene. Mutations in the DCX gene cause isolated lissencephaly, which typically does not involve any other parts of the body. Mutations in the ARX gene can cause X-linked lissencephaly with ambiguous genitalia and other associated health issues. Both genes provide instructions for producing proteins that play a role in the development of the brain. The DCX protein, doublecortin, plays a role in the migration of nerve cells (neurons) to their proper location in the developing brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The ARX protein is also found in the pancreas and testes.
X-linked lissencephaly is seen primarily in males. Most females with a DCX mutation have a milder brain disorder called subcortical band heterotopia, or doublecortex. Females with an ARX mutation usually have some degree of mental retardation, epilepsy, and agenesis of the corpus callosum.
Read more about the ARX and DCX genes.
How do people inherit X-linked lissencephaly?
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
ABOVE IS THE DEFINITION OF A HANDICAP THAT AFFECTS MILLIONS THAT OUR GOVERNMENT NEITHER KNOWS FULLY ABOUT OR HAS TURNED A BLIND EYE TO.
INSURANCE COMPANIES DO NOT "PAY" FOR THIS DISABILITY AS THEY DO FOR AUTISM AND ANY OTHER FORMS OF DISABILITIES.
THOSE WHO SUFFER FROM THIS DISEASE (WITH ITS MANY LEVELS) AND THEIR FAMILIES HAVE AN UP HILL BATTLE TO DEAL WITH THE DAILY STRESS CAUSED BY THIS DISABILITY AND ARE EMOTIONALLY DRAINED. MANY CHILDREN WITH THIS DISABILITY ARE LUCKY TO GET PAST AGE 2 AND THE LONGEST KNOWN CASE THE MAXIMUM AGE WAS 24.
WE NEED THIS PETITION TO MAKE THE GOVERNMENT AWARE SO THAT THERE IS FUNDING FOR RESEARCH AND TO MAKE AWARE THAT THE INSURANCE COMPANIES NEED TO TREAT THIS LIKE ANY OTHER DISABILITY.
MANY FAMILIES NEED HELP WITH THIS AND ARE DOING IT ALL BY THEMSELVES!!!
IT COULD HAPPEN TO THE BEST OF FAMILIES!!!
PLEASE SIGN THIS PETITION SO WE CAN BEGIN TO HELP OUR CHILDREN AND OUR CHILDREN'S CHILDREN.
THANK YOU AND GOD BLESS
189 Signatures
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dawn marie nelligan
- ADDRESS, ZIPCODE
- fall river,ma 02721
- USERS
- 1
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Lisa Langie
- ADDRESS, ZIPCODE
- 02916
- USERS
- Lisa
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Chris Cadwalader
- ADDRESS, ZIPCODE
- 19606
- USERS
- ?
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Tina M Davidson
- ADDRESS, ZIPCODE
- 118 david ln Somerset PA 15501
- USERS
- aol
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Shelly Moore
- Comments
- my son has X-linked (DCX) Lissencephaly Grade 5
- ADDRESS, ZIPCODE
- 161 Marble Ave, East Earl, PA 17519
- USERS
- Shelly Moore
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Lisa McGinnis
- ADDRESS, ZIPCODE
- New Holland, PA 17557
- USERS
- Lisa
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Michelle
- ADDRESS, ZIPCODE
- 11 Darrow Court, 08824
- USERS
- 1
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WENDY SLAYBAUGH
- ADDRESS, ZIPCODE
- 17307
- USERS
- 1
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Jude Mokolo
- ADDRESS, ZIPCODE
- 31 Forest Brook Drive, N. Plainfield, NJ 07060
- USERS
- Jude
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Sandra Shumaker
- ADDRESS, ZIPCODE
- 248 Locust St, New Holland, PA 17557
- USERS
- ss
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Rosalie Berardo
- ADDRESS, ZIPCODE
- 18 Staghorn Dr 08902
- USERS
- ....
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Brandon Davis
- Comments
- signed in support of Camren Moore living in Lancaster, PA
- ADDRESS, ZIPCODE
- 2450 Westside Drive, 14514
- USERS
- not sure what is mean by users
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Scott A. Simoes
- ADDRESS, ZIPCODE
- 275 middle st.,02724
- USERS
- 1
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leonel simoes
- ADDRESS, ZIPCODE
- 275 middle st., fall river,ma
- USERS
- 1
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Scot Scholl
- Comments
- For Camren
- ADDRESS, ZIPCODE
- 2 Kendall Avenue, Apt 5 Pittsburgh 15202
- USERS
- 1
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KEVIN GREEN
- Comments
- LISTEN,LEARN, ACT !!!!!!!!!!!!!!
- ADDRESS, ZIPCODE
- WIGAN
- USERS
- TINGLER
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jeff
- ADDRESS, ZIPCODE
- 17602
- USERS
- 1
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Amanda C.
- ADDRESS, ZIPCODE
- Hartselle, Alabama
- USERS
- .
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Holly
- ADDRESS, ZIPCODE
- 106 royal st. montegut, la 70336
- USERS
- sayiea
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alfred w davis III
- ADDRESS, ZIPCODE
- 34744
- USERS
- 1
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timothy cox
- ADDRESS, ZIPCODE
- westbrook maine 04092
- USERS
- tim7752000
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teresa graybill
- ADDRESS, ZIPCODE
- 10 harristown rd. paradise, pa, 17562
- USERS
- 1
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Ann
- ADDRESS, ZIPCODE
- po box 201 Phoenixville Pa 19460
- USERS
- 1
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Christina Kelly
- ADDRESS, ZIPCODE
- 2525 book flower lane, strasburg, pa 17579
- USERS
- christina kelly
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Martha Bryant
- ADDRESS, ZIPCODE
- 6366 Corbin Court, Gloucester VA 23061
- USERS
- ?
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Portia
- Comments
- I have a daughter who is 23 months old with lissencephaly
- ADDRESS, ZIPCODE
- 2601 w. claremont st.#2040 phoenix az 85017
- USERS
- 85017
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Stephanie
- ADDRESS, ZIPCODE
- 2 Elm Dr. 63376
- USERS
- Stephanie
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Jamie Edwards
- ADDRESS, ZIPCODE
- 1055 Berchmans Lane, 63031
- USERS
- unknown
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Andrea
- Comments
- В
- ADDRESS, ZIPCODE
- N/A
- USERS
- unknown
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Andrea M. Little
- ADDRESS, ZIPCODE
- 605 Woodstream Drive/St. Charles, MO 63304
- USERS
- 1
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Melissa Holladay
- ADDRESS, ZIPCODE
- 63376
- USERS
- Melissa Holladay
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Denise Klobe
- ADDRESS, ZIPCODE
- 803 Amanda Drive St. Peters, Mo. 63376
- USERS
- Denise
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Michael Klobe
- ADDRESS, ZIPCODE
- 63376
- USERS
- Mike
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Katie L Rosner
- ADDRESS, ZIPCODE
- St. Charles 63301
- USERS
- katie
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Pauliene Klavinger
- Comments
- There are so many 'illness' out there that we do not even know about. And I think for the insurance companies to not cover those individuals is just wrong. People should not have to choose between helping their loved one or having a home to live in.
- ADDRESS, ZIPCODE
- 6811 Arcola, 48135
- USERS
- PK
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Selenia Rivera
- Comments
- Im A MOTHER to a 22 month old baby boy with Lissencephaly & Microcephaly.
- ADDRESS, ZIPCODE
- 240 Broadway Staten island Ny 10310 Apt 7F
- USERS
- selenia
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Jenni Cabral
- Comments
- My grandson has this and it is a terrible thing for a family to go through. We are in a constant state of fear for out little angel. He has been in Childrens Hosp many times now....and is there as I write this. He was not doing very well for awhile there but he seems to have bounced back to some degree.....
- ADDRESS, ZIPCODE
- 61 Boxwood Cr. Milford, NH 03055
- USERS
- Unk
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shawn mccool
- Comments
- haylee has band heterotopia
- ADDRESS, ZIPCODE
- 502 hightower trail jefferson,ga.30549
- USERS
- shawn
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Donna Martin
- Comments
- I am signing this so that Little ones like Cameron Moore will get the help they need!!
- ADDRESS, ZIPCODE
- 17602
- USERS
- firechick410@comcas.net
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Bailey Benner
- Comments
- I am a young mother (21) of a 2 year old son with lissencephaly, he was diagnosed at 4 months and a week later his father left.. I wish one day there will be a cure for this, but the only way to get the ball rolling is help from everyone everywhere.
- ADDRESS, ZIPCODE
- 2054 Westfield Terrace, 18017
- USERS
- BaileyBenner
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Linda Jones
- ADDRESS, ZIPCODE
- 3214 Mill Ln PO box 51 Gordonville, PA 17529
- USERS
- Self
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Barbara Hildenbrand
- ADDRESS, ZIPCODE
- 4 winter meadow lane, malvern, pa 19355
- USERS
- ?
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Natasha Burks
- ADDRESS, ZIPCODE
- 114 Hampton Ridge Road 30093
- USERS
- Jada
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Lauren Spratling
- Comments
- Concentrate on helping those who are having to deal with this disability
- ADDRESS, ZIPCODE
- NR33 8LW, England, UK
- USERS
- ?
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TAMMI BUNCH
- ADDRESS, ZIPCODE
- 76036
- USERS
- tammi
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Cheri Johnson
- ADDRESS, ZIPCODE
- Raleigh, NC
- USERS
- n/a
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Jennifer Hamen
- ADDRESS, ZIPCODE
- 444 Cabo Ct 92058
- USERS
- JJHamen
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stevie rickner
- Comments
- we should get first prority like housing
- ADDRESS, ZIPCODE
- 25 siddons road forest hill se23 2jh
- USERS
- s.rickner
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Nicki Cole
- ADDRESS, ZIPCODE
- 110 Troonsway Rd
- USERS
- Matt & Austin
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darcy potter
- ADDRESS, ZIPCODE
- grand haven, mi 49417
- USERS
- Darcy Potter
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189
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