Leukodystrophy

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MedlinePlus: ⁴¹ 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. 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. 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. What causes leukodystrophies? Leukodystrophies are caused by genetic changes. 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 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: 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 What are the treatments for leukodystrophies? There is no cure for leukodystrophies. 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 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. It is treated with chenodeoxycholic acid (CDCA) replacement therapy. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary: Leukodystrophy, also known as leukodystrophies, is related to metachromatic leukodystrophy and krabbe disease, and has symptoms including tremor, back pain and headache. An important gene associated with Leukodystrophy is EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon), and among its related pathways/superpathways are Neural Stem Cells and Lineage-specific Markers and Translation factors. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Reduced mammosphere formation

NINDS: ⁵² Leukodystrophy is not a single disorder. The term refers to a group of rare, primarily inherited neurological disorders known as the leukodystrophies that result from the abnormal production, processing, or development of myelin and other components of central nervous system (CNS) white matter, such as cells called oligodendrocytes and astrocytes. All leukodystrophies are the result of genetic defects (mutations). Some forms are present at birth, while others may not produce symptoms until a child becomes a toddler. A few mostly affects adults. More than 50 different leukodystrophies have been identified, among them: Alexander disease autosomal dominant leukodystrophy with autonomic diseases (ADLD) Canavan disease cerebrotendinous xanthomatosis (CTX) metachromatic leukodystrophy (MLD) Pelizaeus-Merzbacher disease, and Refsum disease. Symptoms vary according to the specific type and may be difficult to recognize in the early stages of the disorder. Each type of leukodystrophy affects myelin differently and in different parts of the CNS, leading to a range of symptoms. The most common symptom is a gradual functional decline in an infant or child who previously appeared well. Progressive loss may appear in: muscle tone balance and mobility walking (gait) speech ability to eat vision hearing behavior

GARD: ¹⁹ 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.

Disease Ontology: ¹¹ A cerebral degeneration characterized by dysfunction of the white matter of the brain.

Wikipedia: ⁷⁵ Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white... more...

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