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Leukodystrofie

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  • 2021-03-20

Leukodystrophy is not a single condition. The term refers to a group of rare mainly inherited neurological disorders known as the leukodystrophies that result from the abnormal production, processing, or development of myelin and other components of the 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 cause symptoms until a child becomes a toddler. A few mainly affects adults. More than 50 different leukodystrophies have been identified, including:

  • Alexander disease
  • autosomal dominant leukodystrophy with autonomic diseases (ADLD),
  • Canavan disease, cerebrotendinous xanthomatosis (CTX),
  • metachromatic leukodystrophy (MLD),
  • Pelizaeus-Merzbacher disease, ed
  • Refsum disease. PProgressive here are many others, and some have not yet been identified.

Symptoms vary according to the specific type and can be difficult to recognize in the early stages of the condition. 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 a baby or child who looked fine before. Progressive lost can appear in:

  • muscle tension
  • balance and mobility
  • walk (gait)
  • speech
  • ability to eat
  • vision
  • to hear
  • behaviour

Therapy

Treatment for most types of leukodystrophy is symptomatic and supportive and may include:

  • medicines
  • physical, occupational and speech therapies
  • nutritional, educational and recreational programs

Medicines can be used to control muscle tension, seizures, and spasticity. Physical, occupational and speech therapies can improve mobility, function and cognitive problems. Nutritional, educational, and recreational programs can also be helpful, depending on the individual's needs.

Stem cell or bone marrow transplant shows promise for a few types of leukodystrophy.

One of the leukodystrophies is now a treatable disease. With an early accurate diagnosis, CTX can be treated effectively with chenodeoxycholic acid (CDCA) replacement therapy.

Prognosis

Leukodystrophies are usually progressive, meaning they get worse over time. The prognosis for leukodystrophy varies depending on the specific type of leukodystrophy.


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