Learn About Leukodystrophy

What is the definition of Leukodystrophy?
A Leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes in the genes involved in making myelin. Specific leukodystrophies include metachromatic Leukodystrophy, Krabbe Leukodystrophy, X-linked adrenoLeukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a Leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.
What are the alternative names for Leukodystrophy?
  • Leukodystrophy
Who are the top Leukodystrophy Local Doctors?
Ingeborg Mann-Krageloh
Elite in Leukodystrophy
Elite in Leukodystrophy
Tuebingen, BW, DE 

Ingeborg Mann-Krageloh practices in Tuebingen, Germany. Ms. Mann-Krageloh is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.

Odile Tanguy-Boespflug
Elite in Leukodystrophy
Elite in Leukodystrophy
Paris, FR 

Odile Tanguy-Boespflug practices in Paris, France. Ms. Tanguy-Boespflug is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Leukodystrophy, Spastic Paraplegia Type 2, Pelizaeus-Merzbacher Disease, and Spinal Muscular Atrophy (SMA).

 
 
 
 
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Elite in Leukodystrophy
Pediatric Neurology | Neurology
Elite in Leukodystrophy
Pediatric Neurology | Neurology

Childrens Health Care Associates Inc

3401 Civic Ctr Blvd, 
Philadelphia, PA 
Languages Spoken:
English

Adeline Vanderver is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver is rated as an Elite provider by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Aicardi-Goutieres Syndrome, Leukodystrophy, CACH Syndrome, Pol 3-Related Leukodystrophy, and Gastrostomy.

What are the latest Leukodystrophy Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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MATRIX - Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Summary: This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile/adult metachromatic leukodystrophy (MLD) and adults with leukoencephalopathy and axonal spheroids and pigmented glia (ALSP). 49 subjects will be enrolled with one blood sample collection during one of the...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center