Metachromatic leukodystrophy: Difference between revisions

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Latest revision as of 12:29, 14 November 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chiranjeevi Sainatham, M.B.B.S [2]

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 .

Classification

Based on the age of onset, Metachromatic Leukodystrophy is classified into three types.

Types:

- Late infantile onset (before 30 months)

- Juvenile onset ( 2.5 years to 16 years)

- Adult onset

Pathophysiology

Metachromatic leukodystrophy is caused by deficiency of Arylsulfatase A (ASA), an autosomal recessive disorder.

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating Metachromatic leukodystrophy from other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Epidemiology and Demographics

The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.

OR

In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

OR

In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.

Patients of all age groups may develop [disease name].

OR

The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.

OR

[Disease name] commonly affects individuals younger than/older than [number of years] years of age.

OR

[Chronic disease name] is usually first diagnosed among [age group].

OR

[Acute disease name] commonly affects [age group].

There is no racial predilection to [disease name].

OR

[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].

[Disease name] affects men and women equally.

OR

[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.

The majority of [disease name] cases are reported in [geographical region].

OR

[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Risk Factors

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Natural History, Complications, and Prognosis

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.

Diagnosis

Diagnostic Study of Choice

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

There are no established criteria for the diagnosis of [disease name].

History and Symptoms

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name].

OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name].

OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name].

OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

OR

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for [disease name] is [therapy].

OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].

Surgery

Surgical intervention is not recommended for the management of [disease name].

OR

Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]

OR

The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].

Secondary Prevention

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

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

External links

Large portions of this article are courtesy of the public domain text available at the National Institute of Neurological Disorders and Stroke [3]
Further information regarding MLD, treatments, genetics, and current research projects, can be found at:

eMedicine article about MLD by Theodore Moore, MD.
mld at NIH/UW GeneTests

References

Template:Metabolic pathology fi:Metakromaattinen leukodystrofia

Template:WikiDoc Sources

Metachromatic leukodystrophy: Difference between revisions

Latest revision as of 12:29, 14 November 2021

Overview

Classification

Pathophysiology

Causes

Differentiating Metachromatic leukodystrophy from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Clinical Trials

See also

External links

References

Navigation menu

@@ Line 1: / Line 1: @@
-{{Infobox_Disease
+__NOTOC__
- | Name           = Metachromatic leukodystrophy
- | Image          =
- | Caption        =
- | DiseasesDB     = 8080
- | ICD10          = {{ICD10|E|75|2|e|70}}
- | ICD9           = {{ICD9|330.0}}
- | ICDO           =
- | OMIM           = 250100
- | MedlinePlus    =
- | eMedicineSubj  = ped
- | eMedicineTopic = 2893
- | MeshID         =
-}}
 {{SI}}
+{{CMG}}; {{AE}}{{Chiranjeevi}}
+{{SK}} Arylsulfatase A deficiency
-'''Metachromatic leukodystrophy ''' ('''MLD''', also called '''Arylsulfatase A deficiency''') 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 .
+==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 .
-== Causes ==
+==Classification==
-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.
+Based on the age of onset, Metachromatic Leukodystrophy is classified into three types.
-== Symptoms and forms ==
+Types:
-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 [[coma]]tose. Untreated, most children with this form of MLD die by age 5, often much sooner.
+- Late infantile onset (before 30 months)
-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.
+- Juvenile onset ( 2.5 years to 16 years)
-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.
+- Adult onset
-In rare cases the body can compensate for the deficiency and the person will exhibit no symptoms.
-== Treatment ==
+==Pathophysiology==
-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.
+Metachromatic leukodystrophy is caused by deficiency of Arylsulfatase A (ASA), an autosomal recessive disorder.
-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).
+==Causes==
+Disease name] may be caused by [cause1], [cause2], or [cause3].
-== Clinical Trials ==
+OR
+Common causes of [disease] include [cause1], [cause2], and [cause3].
+OR
+The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
+OR
+The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].
+==Differentiating Metachromatic leukodystrophy from other Diseases==
+[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
+OR
+[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
+==Epidemiology and Demographics==
+The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
+OR
+In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
+OR
+In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
+Patients of all age groups may develop [disease name].
+OR
+The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
+OR
+[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
+OR
+[Chronic disease name] is usually first diagnosed among [age group].
+OR
+[Acute disease name] commonly affects [age group].
+There is no racial predilection to [disease name].
+OR
+[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
+[Disease name] affects men and women equally.
+OR
+[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
+The majority of [disease name] cases are reported in [geographical region].
+OR
+[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
+==Risk Factors==
+There are no established risk factors for [disease name].
+OR
+The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
+OR
+Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
+OR
+Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
+==Screening==
+There is insufficient evidence to recommend routine screening for [disease/malignancy].
+OR
+According to the [guideline name], screening for [disease name] is not recommended.
+OR
+According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
+==Natural History, Complications, and Prognosis==
+If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
+OR
+Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
+OR
+Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
+==Diagnosis==
+===Diagnostic Study of Choice===
+The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
+OR
+The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
+OR
+The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
+OR
+There are no established criteria for the diagnosis of [disease name].
+===History and Symptoms===
+The majority of patients with [disease name] are asymptomatic.
+OR
+The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
+===Physical Examination===
+Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
+OR
+Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+The presence of [finding(s)] on physical examination is diagnostic of [disease name].
+OR
+The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
+===Laboratory Findings===
+An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
+OR
+Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
+OR
+[Test] is usually normal among patients with [disease name].
+OR
+Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
+OR
+There are no diagnostic laboratory findings associated with [disease name].
+===Electrocardiogram===
+There are no ECG findings associated with [disease name].
+OR
+An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+===X-ray===
+There are no x-ray findings associated with [disease name].
+OR
+An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
+===Echocardiography or Ultrasound===
+There are no echocardiography/ultrasound  findings associated with [disease name].
+OR
+Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
+===CT scan===
+There are no CT scan findings associated with [disease name].
+OR
+[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
+===MRI===
+There are no MRI findings associated with [disease name].
+OR
+[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
+===Other Imaging Findings===
+There are no other imaging findings associated with [disease name].
+OR
+[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+===Other Diagnostic Studies===
+There are no other diagnostic studies associated with [disease name].
+OR
+[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
+OR
+Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
+==Treatment==
+===Medical Therapy===
+There is no treatment for [disease name]; the mainstay of therapy is supportive care.
+OR
+Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
+OR
+The majority of cases of [disease name] are self-limited and require only supportive care.
+OR
+[Disease name] is a medical emergency and requires prompt treatment.
+OR
+The mainstay of treatment for [disease name] is [therapy].
+OR
+The optimal therapy for [malignancy name] depends on the stage at diagnosis.
+OR
+[Therapy] is recommended among all patients who develop [disease name].
+OR
+Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
+OR
+Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
+OR
+Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
+OR
+Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
+===Surgery===
+Surgical intervention is not recommended for the management of [disease name].
+OR
+Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
+OR
+The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
+OR
+The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
+OR
+Surgery is the mainstay of treatment for [disease or malignancy].
+===Primary Prevention===
+There are no established measures for the primary prevention of [disease name].
+OR
+There are no available vaccines against [disease name].
+OR
+Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
+OR
+[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
+===Secondary Prevention===
+There are no established measures for the secondary prevention of [disease name].
+OR
+Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
+====Clinical Trials====
 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)''
 *[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==
@@ Line 54: / Line 362: @@
 *[[The Stennis Foundation]]
-== External links ==
+==External links==
 *Large portions of this article are courtesy of the public domain text available at the [[National Institute of Neurological Disorders and Stroke]] [http://ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm]
 *Further information regarding MLD, treatments, genetics, and current research projects, can be found at:
 **[http://www.MLDfoundation.org The MLD Foundation]
 **[http://www.stennisfoundation.org. The Stennis Foundation]
 **[http://www.evanoskyfoundation.org/1267/3071.html The Evanosky Foundation]
 *[http://www.emedicine.com/ped/topic2893.htm eMedicine article] about MLD by Theodore Moore, MD.
-* {{GeneTests|mld}}
+*{{GeneTests|mld}}
+==References==
+{{reflist|2}}
 {{Metabolic pathology}}
-[[Category:Leukodystrophies]]
+[[Category:Endocrinology]]
 [[fr:Leucodystrophie métachromatique]]
 [[fi:Metakromaattinen leukodystrofia]]
-[[Category:Inborn errors of metabolism]]
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Metachromatic leukodystrophy: Difference between revisions

Latest revision as of 12:29, 14 November 2021

Overview

Classification

Pathophysiology

Causes

Differentiating Metachromatic leukodystrophy from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Clinical Trials

See also

External links

References

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