Krabbe disease: Difference between revisions
No edit summary |
mNo edit summary |
||
| (3 intermediate revisions by 2 users not shown) | |||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{SI}} | |||
{{CMG}}; {{AE}} | |||
{{Search infobox}} | |||
{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Krabbe disease | | Name = Krabbe disease | | ||
| Line 13: | Line 19: | ||
MeshID = D007965 | | MeshID = D007965 | | ||
}} | }} | ||
==Overview== | |||
'''Krabbe disease''' (also known as '''globoid cell leukodystrophy''' or '''galactosylceramide lipidosis''') is a rare, often fatal degenerative disorder that affects the [[nervous system]]. This condition is inherited in an [[autosomal recessive]] pattern. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. | '''Krabbe disease''' (also known as '''globoid cell leukodystrophy''' or '''galactosylceramide lipidosis''') is a rare, often fatal degenerative disorder that affects the [[nervous system]]. This condition is inherited in an [[autosomal recessive]] pattern. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. | ||
| Line 24: | Line 27: | ||
Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals. | Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals. | ||
==Incidence== | ==Historical Perspective== | ||
===Advocacy=== | |||
Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for the disease, following the diagnosis of his son, Hunter, with Krabbe disease in 1997. Hunter Kelly died of the disease August 5, 2005 at the age of 8. He was the longest known living survivor of infantile Krabbe disease. | |||
==Classification== | |||
===Presentation=== | |||
Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, [[fever]]s, limb stiffness, [[seizure]]s, feeding difficulties, [[vomit]]ing, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms with those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression. | |||
===Incidence=== | |||
Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated arab communities in Israel. | Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated arab communities in Israel. | ||
==Pathophysiology== | |||
==Causes== | ==Causes== | ||
Krabbe disease is caused by [[mutation]]s in the [[GALC]] [[gene]], which causes a deficiency of an [[enzyme]] called galactosylceramidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many [[nerve]]s) and causes severe degeneration of mental and motor skills. As part of a group of disorders known as [[leukodystrophy|leukodystrophies]], Krabbe disease results from the imperfect growth and development of [[myelin]]. | Krabbe disease is caused by [[mutation]]s in the [[GALC]] [[gene]], which causes a deficiency of an [[enzyme]] called galactosylceramidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many [[nerve]]s) and causes severe degeneration of mental and motor skills. As part of a group of disorders known as [[leukodystrophy|leukodystrophies]], Krabbe disease results from the imperfect growth and development of [[myelin]]. | ||
== | ==Differentiating {{PAGENAME}} from Other Diseases== | ||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
In infants, the disease is generally fatal before age 2. Patients with a later onset form of the disease have a milder course of the disease and live significantly longer. | |||
==Diagnosis== | ==Diagnosis== | ||
The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g; luxol fast blue) may be used to aid diagnosis. | The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g; luxol fast blue) may be used to aid diagnosis. | ||
===Diagnosis Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Other Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | ==Treatment== | ||
Although there is no cure for Krabbe disease, [[bone marrow]] [[transplantation]] has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. [[Physical therapy]] may help maintain or increase [[muscle]] tone and circulation. A recent study in the ''[[New England Journal of Medicine]]'' reports that [[cord blood]] transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. <ref>{{cite journal| author=Maria L. Escolar, Michele D. Poe, James M. Provenzale, Karen C. Richards, June Allison, Susan Wood, David A. Wenger, Daniel Pietryga, Donna Wall, Martin Champagne, Richard Morse, William Krivit, and Joanne Kurtzberg| title=Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease| journal=New England Journal of Medicine|vol=352 |issue=20 |pages=2069-2081| year=2005}}</ref> | Although there is no cure for Krabbe disease, [[bone marrow]] [[transplantation]] has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. [[Physical therapy]] may help maintain or increase [[muscle]] tone and circulation. A recent study in the ''[[New England Journal of Medicine]]'' reports that [[cord blood]] transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. <ref>{{cite journal| author=Maria L. Escolar, Michele D. Poe, James M. Provenzale, Karen C. Richards, June Allison, Susan Wood, David A. Wenger, Daniel Pietryga, Donna Wall, Martin Champagne, Richard Morse, William Krivit, and Joanne Kurtzberg| title=Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease| journal=New England Journal of Medicine|vol=352 |issue=20 |pages=2069-2081| year=2005}}</ref> | ||
===Medical Therapy=== | |||
== | ===Surgery=== | ||
== | ===Prevention=== | ||
== | |||
''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] and the [http://www.ninds.nih.gov/index.htm National Institute of Neurological Disorders and Stroke].'' | ''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] and the [http://www.ninds.nih.gov/index.htm National Institute of Neurological Disorders and Stroke].'' | ||
[http://www.ncbi.nlm.nih.gov/gquery/gquery.fcgi] | [http://www.ncbi.nlm.nih.gov/gquery/gquery.fcgi] | ||
==External links== | ==External links== | ||
| Line 64: | Line 85: | ||
* {{Chorus|00174}} | * {{Chorus|00174}} | ||
* {{WhoNamedIt|synd|1457}} | * {{WhoNamedIt|synd|1457}} | ||
==See also== | |||
*[[The Myelin Project]] | |||
*[[The Stennis Foundation]] | |||
==References== | |||
{{reflist|2}} | |||
{{Endocrine, nutritional and metabolic pathology}} | {{Endocrine, nutritional and metabolic pathology}} | ||
[[Category:Endocrinology]] | |||
[[de:Morbus Krabbe]] | [[de:Morbus Krabbe]] | ||
| Line 71: | Line 102: | ||
[[fr:Maladie de Krabbe]] | [[fr:Maladie de Krabbe]] | ||
[[he:מחלת קראבה]] | [[he:מחלת קראבה]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Latest revision as of 20:13, 21 July 2016
|
WikiDoc Resources for Krabbe disease |
|
Articles |
|---|
|
Most recent articles on Krabbe disease Most cited articles on Krabbe disease |
|
Media |
|
Powerpoint slides on Krabbe disease |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on Krabbe disease at Clinical Trials.gov Trial results on Krabbe disease Clinical Trials on Krabbe disease at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Krabbe disease NICE Guidance on Krabbe disease
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Krabbe disease Discussion groups on Krabbe disease Patient Handouts on Krabbe disease Directions to Hospitals Treating Krabbe disease Risk calculators and risk factors for Krabbe disease
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Krabbe disease |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
| Krabbe disease | |
| ICD-10 | E75.2 |
|---|---|
| ICD-9 | 330.0 |
| OMIM | 245200 |
| DiseasesDB | 29468 |
| eMedicine | ped/2892 |
| MeSH | D007965 |
Overview
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.
The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures.
Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.
Historical Perspective
Advocacy
Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for the disease, following the diagnosis of his son, Hunter, with Krabbe disease in 1997. Hunter Kelly died of the disease August 5, 2005 at the age of 8. He was the longest known living survivor of infantile Krabbe disease.
Classification
Presentation
Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms with those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.
Incidence
Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated arab communities in Israel.
Pathophysiology
Causes
Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of mental and motor skills. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.
Differentiating Krabbe disease from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
In infants, the disease is generally fatal before age 2. Patients with a later onset form of the disease have a milder course of the disease and live significantly longer.
Diagnosis
The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g; luxol fast blue) may be used to aid diagnosis.
Diagnosis Criteria
History and Symptoms
Physical Examination
Other Imaging Findings
Other Diagnostic Studies
Treatment
Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. A recent study in the New England Journal of Medicine reports that cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. [1]
Medical Therapy
Surgery
Prevention
This article incorporates public domain text from The U.S. National Library of Medicine and the National Institute of Neurological Disorders and Stroke. [2]
External links
- The Stennis Foundation
- The Stennis Foundation's MySpace site
- Hunter's Hope Foundation
- [3]
- [4]
- Template:Chorus
- Template:WhoNamedIt
See also
References
- ↑ Maria L. Escolar, Michele D. Poe, James M. Provenzale, Karen C. Richards, June Allison, Susan Wood, David A. Wenger, Daniel Pietryga, Donna Wall, Martin Champagne, Richard Morse, William Krivit, and Joanne Kurtzberg (2005). "Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease". New England Journal of Medicine (20): 2069–2081. Unknown parameter
|vol=ignored (|volume=suggested) (help)
Template:Endocrine, nutritional and metabolic pathology