Metachromatic leukodystrophy: Difference between revisions

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__NOTOC__
__NOTOC__
{{CMG}}
{{SI}}
{{CMG}}; {{AE}}


{{SK}} Arylsulfatase A deficiency
{{SK}} Arylsulfatase A deficiency
==Overview==
==Overview==
'''Metachromatic leukodystrophy ''' is the most common form of a family of genetic diseases known as the [[leukodystrophies]], diseases which affect the growth and/or development of [[myelin]], the fatty covering which acts as an insulator around [[nerve]] fibres throughout the [[Central nervous system|central]] and [[Peripheral nervous system|peripherial]] [[nervous system]]s .   
'''Metachromatic leukodystrophy ''' is the most common form of a family of genetic diseases known as the [[leukodystrophies]], diseases which affect the growth and/or development of [[myelin]], the fatty covering which acts as an insulator around [[nerve]] fibres throughout the [[Central nervous system|central]] and [[Peripheral nervous system|peripherial]] [[nervous system]]s .   


== Causes ==
==Historical Perspective==
 
==Classification==
 
==Pathophysiology==
===Gene Therapy===
* two trials are in the planning stages in Europe, one in Italy and one in France
 
''Clinical trial updates provided by the [http://www.mldfoundation.org/research MLD Foundation]''
 
==Causes==
MLD is directly caused by a deficiency of the enzyme [[arylsulfatase A]]. Without this enzyme, [[sulfatide]]s build up in many tissues of the body, eventually destroying the myelin of the nervous system.
MLD is directly caused by a deficiency of the enzyme [[arylsulfatase A]]. Without this enzyme, [[sulfatide]]s build up in many tissues of the body, eventually destroying the myelin of the nervous system.


== Symptoms and forms ==
==Differentiating {{PAGENAME}} from Other Diseases==
 
==Epidemiology and Demographics==
 
==Risk Factors==
 
==Screening==
 
==Natural History, Complications, and Prognosis==
===Natural History===
 
===Complications===
 
===Prognosis===
 
==Diagnosis==
===Diagnostic Criteria===
 
===History and Symptoms===
Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult.
Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult.


Line 20: Line 50:
In rare cases the body can compensate for the deficiency and the person will exhibit no symptoms.
In rare cases the body can compensate for the deficiency and the person will exhibit no symptoms.


== Treatment ==
===Physical Examination===
 
===Laboratory Findings===
 
===Imaging Findings===
 
===Other Diagnostic Studies===
 
==Treatment==
There is no cure for MLD, nor a standard form of treatment.  Children with advanced juvenile or adult onset, and late infantile patients displaying symptoms have treatment limited to pain and symptom management.  Presymptomatic late infantile MLD patients, as well as those with juvenile or adult MLD that are either presymptomatic or displaying mild to moderate symptoms, have the option of [[bone marrow transplantation]] (including [[stem cell transplantation]]), which may slow down the progression of the disease, or stop its progression in the central nervous system, however results in the peripheral nervous system have been less dramatic.
There is no cure for MLD, nor a standard form of treatment.  Children with advanced juvenile or adult onset, and late infantile patients displaying symptoms have treatment limited to pain and symptom management.  Presymptomatic late infantile MLD patients, as well as those with juvenile or adult MLD that are either presymptomatic or displaying mild to moderate symptoms, have the option of [[bone marrow transplantation]] (including [[stem cell transplantation]]), which may slow down the progression of the disease, or stop its progression in the central nervous system, however results in the peripheral nervous system have been less dramatic.


Treatment options for the future that are currently being investigated include [[gene therapy]] and [[enzyme replacement therapy]] (ERT), and potentially a enzyme enhancement therapy (EET).
Treatment options for the future that are currently being investigated include [[gene therapy]] and [[enzyme replacement therapy]] (ERT), and potentially a enzyme enhancement therapy (EET).
===Medical Therapy===
===Surgery===
===Prevention===


== Clinical Trials ==
===Future or Investigational Therapies===
====Clinical Trials====
Enzyme Replacement Therapy
Enzyme Replacement Therapy
*Phase II clinical trials are underway in Europe by a Danish company, [http://www.zymenex.com Zymenex], using Metazym, ''(updated August 2007)''
*Phase II clinical trials are underway in Europe by a Danish company, [http://www.zymenex.com Zymenex], using Metazym, ''(updated August 2007)''
*[http://www.shire.com/shire/Pipeline/projects.jsp Shire Human Genetics] is proposing an enzyme replacement therapy
*[http://www.shire.com/shire/Pipeline/projects.jsp Shire Human Genetics] is proposing an enzyme replacement therapy
 
Gene Therapy
* two trials are in the planning stages in Europe, one in Italy and one in France
 
''Clinical trial updates provided by the [http://www.mldfoundation.org/research MLD Foundation]''
 
==See also==
==See also==
*[http://www.evanoskyfoundation.org The Evanosky Foundation]
*[http://www.evanoskyfoundation.org The Evanosky Foundation]
*[http://www.MLDfoundation.org The MLD Foundation]
*[http://www.MLDfoundation.org The MLD Foundation]
Line 51: Line 89:
*[http://www.emedicine.com/ped/topic2893.htm eMedicine article] about MLD by Theodore Moore, MD.
*[http://www.emedicine.com/ped/topic2893.htm eMedicine article] about MLD by Theodore Moore, MD.
* {{GeneTests|mld}}
* {{GeneTests|mld}}
==References==
{{reflist|2}}


{{Metabolic pathology}}
{{Metabolic pathology}}
[[Category:Leukodystrophies]]
 
[[Category:Endocrinology]]


[[fr:Leucodystrophie métachromatique]]
[[fr:Leucodystrophie métachromatique]]
[[fi:Metakromaattinen leukodystrofia]]
[[fi:Metakromaattinen leukodystrofia]]
[[Category:Inborn errors of metabolism]]
 
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Revision as of 17:16, 21 July 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords: Arylsulfatase A deficiency

Overview

Metachromatic leukodystrophy is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems .

Historical Perspective

Classification

Pathophysiology

Gene Therapy

  • two trials are in the planning stages in Europe, one in Italy and one in France

Clinical trial updates provided by the MLD Foundation

Causes

MLD is directly caused by a deficiency of the enzyme arylsulfatase A. Without this enzyme, sulfatides build up in many tissues of the body, eventually destroying the myelin of the nervous system.

Differentiating Metachromatic leukodystrophy from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult.

In the late infantile form, which is the most common form MLD, affected children begin having difficulty walking after the first year of life. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia. Children may become comatose. Untreated, most children with this form of MLD die by age 5, often much sooner.

Children with the juvenile form of MLD (onset between 3-10 years of age) usually begin with impaired school performance, mental deterioration, and dementia and then develop symptoms similar to the late infantile form but with slower progression. Age of death is variable, but normally within 10 to 15 years of symptom onset.

The adult form commonly begins after age 16 as a psychiatric disorder or progressive dementia. Adult-onset MLD progresses more slowly than the late infantile and juvenile forms, with a protracted course of a decade or more.

In rare cases the body can compensate for the deficiency and the person will exhibit no symptoms.

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

There is no cure for MLD, nor a standard form of treatment. Children with advanced juvenile or adult onset, and late infantile patients displaying symptoms have treatment limited to pain and symptom management. Presymptomatic late infantile MLD patients, as well as those with juvenile or adult MLD that are either presymptomatic or displaying mild to moderate symptoms, have the option of bone marrow transplantation (including stem cell transplantation), which may slow down the progression of the disease, or stop its progression in the central nervous system, however results in the peripheral nervous system have been less dramatic.

Treatment options for the future that are currently being investigated include gene therapy and enzyme replacement therapy (ERT), and potentially a enzyme enhancement therapy (EET).

Medical Therapy

Surgery

Prevention

Future or Investigational Therapies

Clinical Trials

Enzyme Replacement Therapy

  • Phase II clinical trials are underway in Europe by a Danish company, Zymenex, using Metazym, (updated August 2007)
  • Shire Human Genetics is proposing an enzyme replacement therapy

See also

External links

References

Template:Metabolic pathology fi:Metakromaattinen leukodystrofia


Template:WikiDoc Sources