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Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Introduction

Metachromatic Leukodystrophy: Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders ... more about Metachromatic Leukodystrophy.

Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body. More detailed information about the symptoms, causes, and treatments of Metachromatic Leukodystrophy is available below.

Symptoms of Metachromatic Leukodystrophy

Treatments for Metachromatic Leukodystrophy

Home Diagnostic Testing

Home medical testing related to Metachromatic Leukodystrophy:

Wrongly Diagnosed with Metachromatic Leukodystrophy?

Metachromatic Leukodystrophy: Related Patient Stories

Types of Metachromatic Leukodystrophy

  • Late infantile MLD - most common form
  • Juvenile MLD
  • Adult MLD
  • more types...»

Metachromatic Leukodystrophy: Complications

Review possible medical complications related to Metachromatic Leukodystrophy:

Causes of Metachromatic Leukodystrophy

Read more about causes of Metachromatic Leukodystrophy.

Disease Topics Related To Metachromatic Leukodystrophy

Research the causes of these diseases that are similar to, or related to, Metachromatic Leukodystrophy:

Metachromatic Leukodystrophy: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Metachromatic Leukodystrophy

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was initially misdiagnosed as a "nervous...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which the symptoms are...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of...read more »

Metachromatic Leukodystrophy: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Metachromatic Leukodystrophy: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Metachromatic Leukodystrophy

Medical research articles related to Metachromatic Leukodystrophy include:

Click here to find more evidence-based articles on the TRIP Database

Metachromatic Leukodystrophy: Animations

Prognosis for Metachromatic Leukodystrophy

Prognosis for Metachromatic Leukodystrophy: Poor. Life-shortening. Often death 3-6 years after onset for infantile form; death within 6-14 years of onset for other forms.

Research about Metachromatic Leukodystrophy

Visit our research pages for current research about Metachromatic Leukodystrophy treatments.

Clinical Trials for Metachromatic Leukodystrophy

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Metachromatic Leukodystrophy include:

Statistics for Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Broader Related Topics

Metachromatic Leukodystrophy Message Boards

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User Interactive Forums

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Article Excerpts about Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain. (Source: excerpt from NINDS Metachromatic Leukodystrophy Information Page: NINDS)

Definitions of Metachromatic Leukodystrophy:

An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5) - (Source - Diseases Database)

Metachromatic Leukodystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Metachromatic Leukodystrophy, or a subtype of Metachromatic Leukodystrophy, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Metachromatic Leukodystrophy as a "rare disease".
Source - Orphanet

 

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