Leukodystrophy
Symptoms, Doctors, Treatments, Advances & More

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?
Joshua Bonkowsky
Elite in Leukodystrophy
Elite in Leukodystrophy

Pediatric Nephrology - University Of Utah Hospital

50 N Medical Dr, 
Salt Lake City, UT 
Experience:
28+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Dr. Josh Bonkowsky is an associate professor of Pediatric Neurology (Pediatrics) and of Neurology. He obtained his MD and PhD degrees at the University of California. His undergraduate training was at Harvard University, and his Pediatrics and Neurology/Pediatric Neurology training was at the University of Utah and Boston Children's Hospital. His clinical studies are focused on understanding clinical features of leukodystrophies and genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating genetics of leukodystrophies to understand the genetic and medical impacts of these disorders. The Bonkowsky Laboratory is generating disease models for high-throughput drug discovery and investigating human neurogenetic diseases, specifically diseases of basal ganglia function and white matter diseases. On sunny afternoons, Dr. Bonkowsky enjoys trail running and learning to skate ski. Dr. Bonkowsky is rated as an Elite provider by MediFind in the treatment of Leukodystrophy. His top areas of expertise are CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy.

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 Leukodystrophy, Metachromatic Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.

 
 
 
 
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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, Spinal Muscular Atrophy (SMA), and Pelizaeus-Merzbacher Disease.

What are the latest Leukodystrophy Clinical Trials?
Natural History, Diagnosis, and Outcomes for Leukodystrophies

Summary: The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.

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