Table of Contents
What are the symptoms of leukodystrophy?
Symptoms
- Loss of the ability to detect sensations, such as touch, pain, heat and sound.
- Loss of intellectual, thinking and memory skills.
- Loss of motor skills, such as walking, moving, speaking and swallowing.
- Stiff, rigid muscles, poor muscle function and paralysis.
- Loss of bladder and bowel function.
- Gallbladder problems.
Are all leukodystrophies fatal?
Currently, over 40 different leukodystrophies have been described. These are, by definition, progressive diseases, meaning that the disease gets worse throughout a lifetime. Some of these diseases start in early infancy, progress rapidly, and are fatal, while others only affect adults or progress slowly over decades.
What does leukoencephalopathy mean?
Leukoencephalopathy (LE) is a structural alteration of the cerebral white matter in which myelin suffers the most damage (Filley & Kleinschmidt-DeMasters, 2001).
How many leukodystrophies are there?
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.
Is there any cure for leukodystrophy?
Leukodystrophies cause a range of symptoms, including seizures and mental impairment. Therapies such as medication and rehabilitation can help ease symptoms. But there’s no cure for leukodystrophy. The condition is usually fatal.
Can leukodystrophy affect the brain?
Leukodystrophy refers to a group of genetic conditions that affect the white matter of the brain. Leukodystrophy causes loss of normal brain functions. Symptoms of leukodystrophy can vary. Most leukodystrophies do not have a cure, but therapies are being developed that can help stop the condition from getting worse.
What is Hypomyelination disorder?
Hypomyelination: an abnormally low amount of myelination (the process by which an insulating layer of fatty tissue develops surrounding nerve cells). A number of conditions (hypomyelinating disorders) are characterized by an abnormally low amount of myelination.
What causes leukoencephalopathy?
Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin–the material that insulates nerve cells (neurons).
Is PML fatal?
Some people may experience headaches or epilepsy, although these symptoms are rare. Eventually, PML usually progresses. The condition is often fatal, but the outlook varies according to the underlying condition and response to treatment.
Is leukoencephalopathy the same as leukodystrophy?
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known or unknown. It can refer specifically to any of these diseases: Progressive multifocal leukoencephalopathy.
Who treats leukodystrophy?
At Mayo Clinic, a team of doctors trained in nervous system conditions (neurologists), genetic disorders (medical geneticists) and other specialties work together as a team to care for people with metachromatic leukodystrophy.
Is leukodystrophy a disability?
Because this condition is one of the 88 disabilities that qualify a Social Security Disability claim for processing under the Compassionate Allowances guidelines.