Progeria (patient information): Difference between revisions
No edit summary |
No edit summary |
||
| Line 5: | Line 5: | ||
{{CMG}}; Jinhui Wu, MD | {{CMG}}; Jinhui Wu, MD | ||
==Overview== | |||
== | |||
[[Image:Hutchinson-Gilford Progeria Syndrome.png|200px|thumb|left| | [[Image:Hutchinson-Gilford Progeria Syndrome.png|200px|thumb|left| | ||
In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom, right) rather than the uniform shape typically found in healthy individuals (top, right)]] | In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom, right) rather than the uniform shape typically found in healthy individuals (top, right)]] | ||
| Line 13: | Line 11: | ||
Hutchinson-Gilford Progeria Syndrome (HGPS), was named after the doctors who first described it in England in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. It is a rare, fatal genetic condition characterized by a characteristic facial appearance and slow growth in children. They may suffer from symptoms typically seen in much older people, such as [[coronary artery disease]], [[cataract]]s, [[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. Now a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process. | Hutchinson-Gilford Progeria Syndrome (HGPS), was named after the doctors who first described it in England in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. It is a rare, fatal genetic condition characterized by a characteristic facial appearance and slow growth in children. They may suffer from symptoms typically seen in much older people, such as [[coronary artery disease]], [[cataract]]s, [[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. Now a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process. | ||
== | ==What are the symptoms of progeria?== | ||
Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following: | Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following: | ||
| Line 23: | Line 21: | ||
Also, they suffer from symptoms typically seen in much older people, such as [[coronary artery disease]], [[cataract]]s,[[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. | Also, they suffer from symptoms typically seen in much older people, such as [[coronary artery disease]], [[cataract]]s,[[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. | ||
==Who is at risk | ==Who is at highest risk?== | ||
Progeria is a very rare disease in the world. The cause is not clear. Researchers found that [[mutation]]s in the LMNA [[gene]] may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable. | Progeria is a very rare disease in the world. The cause is not clear. Researchers found that [[mutation]]s in the LMNA [[gene]] may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable. | ||
== | ==Diagnosis== | ||
In the past, doctors diagnosed progeria solely on physical symptoms, such as [[skin]] changes and a failure to gain weight. It was availble only when the child appear signs at their age of one or two years. Now, a [[genetic test]] makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process. | In the past, doctors diagnosed progeria solely on physical symptoms, such as [[skin]] changes and a failure to gain weight. It was availble only when the child appear signs at their age of one or two years. Now, a [[genetic test]] makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process. | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
Some children with progeria suffer from symptoms of [[coronary artery disease]] and [[stroke]], which often appear in old people. These diseases may be severe and fatal. If your child experience either of the following symptoms, seeking urgent medical care as soon as possible: | Some children with progeria suffer from symptoms of [[coronary artery disease]] and [[stroke]], which often appear in old people. These diseases may be severe and fatal. If your child experience either of the following symptoms, seeking urgent medical care as soon as possible: | ||
:*[[Chest pain]] | :*[[Chest pain]] | ||
:*[[Shortness of breath]] | :*[[Shortness of breath]] | ||
| Line 44: | Line 41: | ||
==Treatment options== | ==Treatment options== | ||
No treatments have been proven effective. Most treatment focuses on signs and symptoms. | No treatments have been proven effective. Most treatment focuses on signs and symptoms. | ||
:*[[Vitamin]] B and E may be helpful for bald skin. | :*[[Vitamin]] B and E may be helpful for bald skin. | ||
:*Good lifestyle, low-dose [[aspirin]] and [[heart bypass]] can be used to treat [[complication]] such as [[cardiovascular disease]]. | :*Good lifestyle, low-dose [[aspirin]] and [[heart bypass]] can be used to treat [[complication]] such as [[cardiovascular disease]]. | ||
| Line 58: | Line 54: | ||
Prognosis of children with progeria is very poor. They may suffer from diseases such as [[coronary artery disease]], [[cataract]]s, [[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. | Prognosis of children with progeria is very poor. They may suffer from diseases such as [[coronary artery disease]], [[cataract]]s, [[osteoarthritis]] and [[stroke]]. Death occurs on average at age 13, usually from [[heart attack]] or [[stroke]]. | ||
== | ==Sources== | ||
http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome | http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome | ||
http://www.genome.gov/11007255 | http://www.genome.gov/11007255 | ||
[[Category:Patient information]] | [[Category:Patient information]] | ||
[[Category:Aging]] | [[Category:Aging]] | ||
| Line 72: | Line 63: | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Congenital disorders]] | |||
[[Category:Congenital disorders patient information]] | |||
{{WH}} | |||
{{WS}} | |||
Latest revision as of 16:34, 2 August 2011
For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD
Overview
Hutchinson-Gilford Progeria Syndrome (HGPS), was named after the doctors who first described it in England in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. It is a rare, fatal genetic condition characterized by a characteristic facial appearance and slow growth in children. They may suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke. Now a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process.
What are the symptoms of progeria?
Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following:
- Prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears.
- Bald, aged-looking skin, a loss of fat under the skin
- Hair loss
- Joint abnormalities
Also, they suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts,osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke.
Who is at highest risk?
Progeria is a very rare disease in the world. The cause is not clear. Researchers found that mutations in the LMNA gene may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable.
Diagnosis
In the past, doctors diagnosed progeria solely on physical symptoms, such as skin changes and a failure to gain weight. It was availble only when the child appear signs at their age of one or two years. Now, a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process.
When to seek urgent medical care?
Some children with progeria suffer from symptoms of coronary artery disease and stroke, which often appear in old people. These diseases may be severe and fatal. If your child experience either of the following symptoms, seeking urgent medical care as soon as possible:
- Chest pain
- Shortness of breath
- Palpitation
- Diaphoresis
- Headache
- Hemiplegia and muscle weakness of the face
- Numbness
- Reduction in sensory or vibratory sensation
- Loss of consciousness
Treatment options
No treatments have been proven effective. Most treatment focuses on signs and symptoms.
- Vitamin B and E may be helpful for bald skin.
- Good lifestyle, low-dose aspirin and heart bypass can be used to treat complication such as cardiovascular disease.
- Growth hormone treatment has been attempted for insufficient children.
Where to find medical care for progeria?
Directions to Hospitals Treating progeria
Prevention of progeria
For parents of children with progeria, a genetic test may be needed to asses the possibility to have a future offspring with the same condition.
What to expect (Outook/Prognosis)?
Prognosis of children with progeria is very poor. They may suffer from diseases such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke.
Sources
http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome http://www.genome.gov/11007255