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

• Symptoms of the infantile form:
  • Onset of symptoms 6 months to 2 years
  • Mental deterioration
  • Hypotonia (low muscle tone)
  • Speech abnormalities
• more symptoms...»

See full list of 41 symptoms of Metachromatic Leukodystrophy

Home Diagnostic Testing

Home medical testing related to Metachromatic Leukodystrophy:

• Nerve Neuropathy: Related Home Testing:
  • Home Diabetes Test Kits
  • Home Blood Glucose Testing Kits
• Brain & Neurological Disorders: Related Home Testing:
  • ADHD -- Home Tests
  • Drug Screening Kits
• more tests...»

Metachromatic Leukodystrophy: Complications

Review possible medical complications related to Metachromatic Leukodystrophy:

• Death
• Dementia
• more complications...»

Wrongly Diagnosed with Metachromatic Leukodystrophy?

• Misdiagnosis of Metachromatic Leukodystrophy
• Failure to diagnose Metachromatic Leukodystrophy
• Undiagnosed: Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Self Assessment Tools

• Stroke -- Self Assessment Tools
• more tools...»

Metachromatic Leukodystrophy: Marketplace Products, Discounts & Offers

Products, offers and promotion categories available for Metachromatic Leukodystrophy:

• Stroke
• Brain
• more product offers...»

Metachromatic Leukodystrophy: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

• Brain & Neurological Disorders: Undiagnosed:
  • Adult ADHD -- Undiagnosed - ADHD can be undiagnosed in adults.
  • ADHD -- Undiagnosed
  • Alzheimer Disease -- Undiagnosed
  • Migraine -- Undiagnosed
  • Concentration Disorders -- Undiagnosed
  • Stroke -- Undiagnosed
  • Bipolar Disorder -- Undiagnosed
  • Schizophrenia -- Undiagnosed
  • Epilepsy -- Undiagnosed
• more undiagnosed conditions...»

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...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...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 diagnosis. The condition goes...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...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 misdiagnosed as ...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...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as ...read more »

Read more about Misdiagnosis and Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Research Doctors & Specialists

Research related physicians and medical specialists:

• Nerve Specialists:
  • Neuromusculoskeletal Medicine
  • Neurology (Brain/CNS Specialists)
  • Pediatric Neurology (Child Brain Specialist)
  • Spinal Cord Injury Medicine
• Neurology (Brain/CNS Specialists):
  • Pediatric Neurosurgery (Child Neurosurgeon)
  • Clinical Neurophysiology
  • Neurodevelopment Disabilities
  • Neurosurgery (Brain Surgery)
  • Neuromusculoskeletal Medicine (Nerve/Muscle/Bone Specialists)
  • Neuroradiology
  • Vascular Neurology
  • Neuropathology
  • Otology / Neurotology (Ear/Hearing Specialists)
• Stroke & Vascular Specialists:
  • Vascular Neurology (Brain Blood Vessels)
  • Vascular & Interventional Radiology
  • Vascular Surgery (Blood Vessel Surgeon)
  • Neuropathology (Brain Diagnostics)
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Metachromatic Leukodystrophy: Rare Types

Rare types of diseases and disorders in related medical categories:

• Brain & Neurological Disorders: Rare Types:
  • Adult ADHD -- Rare Types
  • ADHD -- Rare Types
  • Alzheimer Disease -- Rare Types
  • Migraine -- Rare Types
  • Concentration Disorders -- Rare Types
  • Stroke -- Rare Types
  • Bipolar Disorder -- Rare Types
  • Schizophrenia -- Rare Types
  • Epilepsy -- Rare Types
• more rare diseases...»

Treatments for Metachromatic Leukodystrophy

• Symptomatic and supportive
• Bone marrow transplantation
• more treatments...»

Read more about treatments for Metachromatic Leukodystrophy

News Archives for Metachromatic Leukodystrophy

Medical news articles related to Metachromatic Leukodystrophy include:

• Good Golf Form Can Improve Game and Prevent Pain
• Vaccine Shields Monkeys From Simian Form of HIV
• Genetic Research Offers Insights Into Form of Malaria
• Patch Form of HRT Poses Less Clotting Risks Than Pill Does
• Gloves Made From New Form of Latex Approved
• Gene Linked to Form of Parkinson's Disease
• Genetic Cause of Form of Glaucoma Identified
• more health news...»

Source: HealthDay News

Evidence Based Medicine Research for Metachromatic Leukodystrophy

Medical research articles related to Metachromatic Leukodystrophy include:

• Genetic Tests for Non-Cancer Diseases/Conditions: A Horizon Scan
• Schizophrenia (Diagnosis)
• Inborn Errors of Metabolism in Infancy and Early Childhood: An Update
• Cerebral Palsy: An Overview
• Ichthyosis, X-Linked (Diagnosis)
• more research...»

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

Videos for Metachromatic Leukodystrophy

Patient Surveys for Metachromatic Leukodystrophy

• Patient Profile Survey
  Take Survey  View Results
• Survey about the symptoms of your Metachromatic Leukodystrophy
  Take Survey  View Results

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.

More about prognosis of Metachromatic Leukodystrophy

Reseach 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:

• Stem Cell Transplantation (SCT) for Genetic Diseases - This study has been completed (Current: 23 Nov 2006)
• Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation - This study is no longer recruiting patients (Current: 23 Nov 2006)
• Stem Cell Transplant for Inborn Errors of Metabolism - This study is currently recruiting patients (Current: 23 Nov 2006) - Busulfan,Cyclophosphamide,ATG
• HSCT for High Risk Inherited Inborn Errors - This study is currently recruiting patients (Current: 23 Nov 2006) - Campath,Clofarabine
• Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism - This study is currently recruiting patients (Current: 23 Nov 2006) - anti-thymocyte globulin,cyclophosphamide,cyclosporine,filgrastim,methylprednisolone
• more trials...»

Read more about Clinical Trials for Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Broader Related Topics

• Leukodystrophy
• Brain conditions
• Genetic Disease
• more types...»

Types of Metachromatic Leukodystrophy

Types of Metachromatic Leukodystrophy

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

Read more about Types of Metachromatic Leukodystrophy

Stories from Users Related to Metachromatic Leukodystrophy

• unable to consistently form sentences, dizziness,fatigue,memory loss, respatory prob.
• Eurythema Multi Forme
• bumps keep forming
• Leukodystrophy
• metachromatic leukodystrophy
• MLD Foundation - resource

Related forums and medical stories:

• Brain Conditions (246)
  • arachnoid cyst
  • Pain/Pressure in back of head when I laugh
  • Fluid running down back of my head feeling
  • "ice Pick" Headaches
  • vertigo + other symptoms
  • More user stories

User Interactive Forums

Read about other experiences, ask a question about Metachromatic Leukodystrophy, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

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