{"id":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C0023520","notation":"C0023520","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0023520"],"prefLabel":"Leukodystrophies","definition":["<h3>What are leukodystrophies?</h3> <p>Leukodystrophies are a group of rare <a href=\"https://medlineplus.gov/geneticbraindisorders.html\">genetic disorders</a> 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:</p><ul> <li>Nerve fibers, also called axons, which connect your nerve cells</li> <li>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.</li> </ul> <p>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 <a href=\"https://medlineplus.gov/movementdisorders.html\">movement</a>, <a href=\"https://medlineplus.gov/visionimpairmentandblindness.html\">vision</a>, <a href=\"https://medlineplus.gov/hearingdisordersanddeafness.html\">hearing</a>, and thinking.</p> <p>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.</p> <h3>What causes leukodystrophies?</h3> <p>Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.</p> <h3>What are the symptoms of leukodystrophies?</h3> <p>The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:</p><ul> <li>Muscle tone</li> <li><a href=\"https://medlineplus.gov/balanceproblems.html\">Balance</a> and mobility</li> <li>Walking</li> <li>Speech</li> <li>Ability to eat</li> <li>Vision</li> <li>Hearing</li> <li>Behavior</li> </ul> <p>There can also be other symptoms, such as:</p><ul> <li><a href=\"https://medlineplus.gov/learningdisabilities.html\">Learning disabilities</a></li> <li><a href=\"https://medlineplus.gov/bladderdiseases.html\">Bladder issues</a></li> <li><a href=\"https://medlineplus.gov/breathingproblems.html\">Breathing problems</a></li> <li><a href=\"https://medlineplus.gov/developmentaldisabilities.html\">Developmental disabilities</a></li> <li>Muscle control disorders</li> <li><a href=\"https://medlineplus.gov/seizures.html\">Seizures</a></li> </ul> <h3>How are leukodystrophies diagnosed?</h3> <p>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:</p><ul> <li>Physical and <a href=\"https://medlineplus.gov/lab-tests/neurological-exam/\">neurological</a> exams</li> <li>A medical history, including asking about family history</li> <li><a href=\"https://medlineplus.gov/diagnosticimaging.html\">Imaging tests</a>, such as an <a href=\"https://medlineplus.gov/mriscans.html\">MRI</a> or <a href=\"https://medlineplus.gov/ctscans.html\">CT scan</a></li> <li><a href=\"https://medlineplus.gov/genetictesting.html\">Genetic testing</a> to look for genetic changes that could cause leukodystrophies</li> <li>Lab tests</li> </ul> <h3>What are the treatments for leukodystrophies?</h3> <p>There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:</p><ul> <li>Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)</li> <li>Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems</li> <li>Nutritional therapy for eating and swallowing problems</li> <li>Educational and recreational programs</li> </ul> <p><a href=\"https://medlineplus.gov/stemcells.html\">Stem cell</a> or <a href=\"https://medlineplus.gov/bonemarrowtransplantation.html\">bone marrow</a> transplantation can be helpful for a few types of leukodystrophy.</p> <p>One type of leukodystrophy, CTX, is treatable if it is diagnosed early. 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are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases.https://medlineplus.gov/leukodystrophies.html"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0023520"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Leukodystrophies"],"http://www.w3.org/2004/02/skos/core#definition":["<h3>What are leukodystrophies?</h3> <p>Leukodystrophies are a group of rare <a href=\"https://medlineplus.gov/geneticbraindisorders.html\">genetic disorders</a> 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:</p><ul> <li>Nerve fibers, also called axons, which connect your nerve cells</li> <li>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.</li> </ul> <p>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 <a href=\"https://medlineplus.gov/movementdisorders.html\">movement</a>, <a href=\"https://medlineplus.gov/visionimpairmentandblindness.html\">vision</a>, <a href=\"https://medlineplus.gov/hearingdisordersanddeafness.html\">hearing</a>, and thinking.</p> <p>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.</p> <h3>What causes leukodystrophies?</h3> <p>Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.</p> <h3>What are the symptoms of leukodystrophies?</h3> <p>The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:</p><ul> <li>Muscle tone</li> <li><a href=\"https://medlineplus.gov/balanceproblems.html\">Balance</a> and mobility</li> <li>Walking</li> <li>Speech</li> <li>Ability to eat</li> <li>Vision</li> <li>Hearing</li> <li>Behavior</li> </ul> <p>There can also be other symptoms, such as:</p><ul> <li><a href=\"https://medlineplus.gov/learningdisabilities.html\">Learning disabilities</a></li> <li><a href=\"https://medlineplus.gov/bladderdiseases.html\">Bladder issues</a></li> <li><a href=\"https://medlineplus.gov/breathingproblems.html\">Breathing problems</a></li> <li><a href=\"https://medlineplus.gov/developmentaldisabilities.html\">Developmental disabilities</a></li> <li>Muscle control disorders</li> <li><a href=\"https://medlineplus.gov/seizures.html\">Seizures</a></li> </ul> <h3>How are leukodystrophies diagnosed?</h3> <p>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:</p><ul> <li>Physical and <a href=\"https://medlineplus.gov/lab-tests/neurological-exam/\">neurological</a> exams</li> <li>A medical history, including asking about family history</li> <li><a href=\"https://medlineplus.gov/diagnosticimaging.html\">Imaging tests</a>, such as an <a href=\"https://medlineplus.gov/mriscans.html\">MRI</a> or <a href=\"https://medlineplus.gov/ctscans.html\">CT scan</a></li> <li><a href=\"https://medlineplus.gov/genetictesting.html\">Genetic testing</a> to look for genetic changes that could cause leukodystrophies</li> <li>Lab tests</li> </ul> <h3>What are the treatments for leukodystrophies?</h3> <p>There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:</p><ul> <li>Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)</li> <li>Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems</li> <li>Nutritional therapy for eating and swallowing problems</li> <li>Educational and recreational programs</li> </ul> <p><a href=\"https://medlineplus.gov/stemcells.html\">Stem cell</a> or <a href=\"https://medlineplus.gov/bonemarrowtransplantation.html\">bone marrow</a> transplantation can be helpful for a few types of leukodystrophy.</p> <p>One type of leukodystrophy, CTX, is treatable if it is diagnosed early. 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