Leukodystrophy
Symptoms, Doctors, Treatments, Advances & More

Leukodystrophy Overview

Save information for later
Sign Up

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?
Elite in Leukodystrophy
Elite in Leukodystrophy
Referral may be required

Pediatric Nephrology - University Of Utah Hospital

50 N Medical Dr, 
Salt Lake City, UT 
801-213-3599
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Joshua Bonkowsky is a Neurologist practicing medicine in Salt Lake City, Utah. Dr. Bonkowsky is rated as an Elite provider by MediFind in the treatment of Leukodystrophy. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy. Dr. Bonkowsky is board certified in American Board Of Psychiatry And Neurology. Dr. Bonkowsky is currently accepting new patients.

Elite in Leukodystrophy
Elite in Leukodystrophy
Referral may be required
Tuebingen, BW, DE 

Ingeborg Mann-Kraegeloh practices practicing medicine in Tuebingen, Germany. Ms. Mann-Kraegeloh is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Leukodystrophy
Elite in Leukodystrophy
Referral may be required
Paris, FR 

Odile Tanguy-Boespflug practices practicing medicine in Paris, France. Ms. Tanguy-Boespflug is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Leukodystrophy, Spastic Paraplegia Type 2, Spinal Muscular Atrophy (SMA), and Pelizaeus-Merzbacher Disease.

View All Doctors
What are the latest Leukodystrophy Clinical Trials?
Natural History, Diagnosis, and Outcomes for Leukodystrophies
Natural History, Diagnosis, and Outcomes for Leukodystrophies
Enrollment Status: Recruiting
Publish Date: January 13, 2026

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

Match to trials
Find the right clinical trials for you in under a minute
Get started
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

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...

View All Clinical Trials
Who are the sources who wrote this article ?

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