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V体育官网入口 - Summary
What are leukodystrophies?
Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord VSports手机版. Leukodystrophies damage the white matter of your CNS. The white matter includes:.
- Nerve fibers, also called axons, which connect your nerve cells
- Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.
When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking V体育安卓版.
There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time V体育ios版.
What causes leukodystrophies?
Leukodystrophies are caused by genetic changes VSports最新版本. These changes are usually inherited, meaning that they are passed from parent to child.
What are the symptoms of leukodystrophies?
The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:
- Muscle tone
- Balance and mobility
- Walking
- Speech
- Ability to eat
- Vision
- Hearing
- Behavior
There can also be other symptoms, such as:
- Learning disabilities (V体育官网入口)
- Bladder issues
- Breathing problems
- Developmental disabilities
- Muscle control disorders
- Seizures
How are leukodystrophies diagnosed?
Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis: VSports注册入口.
- Physical and neurological exams
- A medical history, including asking about family history
- Imaging tests, such as an MRI or CT scan
- Genetic testing to look for genetic changes that could cause leukodystrophies
- Lab tests
"V体育官网" What are the treatments for leukodystrophies?
There is no cure for leukodystrophies V体育官网入口. Treatment focuses on relieving symptoms and providing support. It may include:.
- Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
- Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
- Nutritional therapy for eating and swallowing problems
- Educational and recreational programs
V体育官网入口 - Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.
One type of leukodystrophy, CTX, is treatable if it is diagnosed early V体育2025版. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.
NIH: National Institute of Neurological Disorders and Stroke
Treatments and Therapies
VSports在线直播 - Specifics
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Aicardi-Goutieres Syndrome (V体育官网入口)
(National Institute of Neurological Disorders and Stroke)
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"V体育ios版" CADASIL
(National Institute of Neurological Disorders and Stroke) Also in Spanish
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Leukodystrophy
(National Institute of Neurological Disorders and Stroke)
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V体育平台登录 - Lipid Storage Diseases
(National Institute of Neurological Disorders and Stroke)
Genetics
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: MedlinePlus Genetics
(National Library of Medicine)
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Aicardi-Goutières syndrome: MedlinePlus Genetics
(National Library of Medicine)
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Alexander disease: MedlinePlus Genetics (V体育2025版)
(National Library of Medicine)
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Autosomal dominant leukodystrophy with autonomic disease: MedlinePlus Genetics
(National Library of Medicine)
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Canavan disease: MedlinePlus Genetics
(National Library of Medicine)
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VSports在线直播 - D-bifunctional protein deficiency: MedlinePlus Genetics
(National Library of Medicine)
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Hypomyelination and congenital cataract: MedlinePlus Genetics
(National Library of Medicine)
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Hypomyelination with brainstem and spinal cord involvement and leg spasticity: MedlinePlus Genetics
(National Library of Medicine)
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Krabbe disease: MedlinePlus Genetics
(National Library of Medicine)
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V体育平台登录 - Leukoencephalopathy with thalamus and brainstem involvement and high lactate: MedlinePlus Genetics
(National Library of Medicine)
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Leukoencephalopathy with vanishing white matter: MedlinePlus Genetics
(National Library of Medicine)
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VSports手机版 - Megalencephalic leukoencephalopathy with subcortical cysts: MedlinePlus Genetics
(National Library of Medicine)
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Metachromatic leukodystrophy: MedlinePlus Genetics
(National Library of Medicine)
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Pelizaeus-Merzbacher disease: MedlinePlus Genetics
(National Library of Medicine)
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Pelizaeus-Merzbacher-like disease type 1: MedlinePlus Genetics
(National Library of Medicine)
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Peroxisomal acyl-CoA oxidase deficiency: MedlinePlus Genetics
(National Library of Medicine)
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Pol III-related leukodystrophy: MedlinePlus Genetics
(National Library of Medicine)
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RNAse T2-deficient leukoencephalopathy: MedlinePlus Genetics (VSports)
(National Library of Medicine)
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TUBB4A-related leukodystrophy: MedlinePlus Genetics
(National Library of Medicine)
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VSports app下载 - X-linked adrenoleukodystrophy: MedlinePlus Genetics
(National Library of Medicine)
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"V体育ios版" Zellweger spectrum disorder: MedlinePlus Genetics
(National Library of Medicine)
Clinical Trials
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ClinicalTrials.gov: Adrenoleukodystrophy
(National Institutes of Health)
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"VSports" ClinicalTrials.gov: Canavan Disease
(National Institutes of Health)
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ClinicalTrials.gov: Leukodystrophy, Globoid Cell
(National Institutes of Health)
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ClinicalTrials.gov: Leukodystrophy, Metachromatic
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease.
- "VSports" Article: ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor...
- Article: Amelioration of Inflammation and Metabolic Blockage in GALC Deficient Mice After...
- Leukodystrophies -- see more articles (VSports在线直播)