What are the symptoms of leukodystrophy?
As the disease progresses, symptoms can include:
- Abnormal body and muscle tone.
- Abnormal movements.
- Increased difficulty or loss of ability to walk.
- Trouble with speech.
- Difficulty with eating.
- Decline in vision and/or hearing.
- Decline in mental and physical development.
What is Pelizaeus Merzbacher disease?
Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate.
How long do kids with PMD live?
Life expectancy of a few years to teen years. If symptoms appear a month or later after birth (nystagmus, hypotonia), then it is most likely the classic type of PMD. Life expectancy could extend to their 40s. In order for PMD to be accurately diagnosed, a brain MRI and a genetic blood test are done.
What is Hypomyelination disorder?
Hypomyelinating disorders are a heterogeneous subset of white matter disorders characterized by abnormally low amounts of myelination.
Can adults get Alexander disease?
The juvenile form of Alexander disease has an onset between the ages of two and thirteen years. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common.
Is there a cure for leukodystrophy?
There is no cure for most kinds of leukodystrophy. Treating it depends on the type, and doctors address the symptoms of the disease with medications and special kinds of physical, occupational, and speech therapy. Some people may need additional help with learning or nutrition.
Is PMD life threatening?
Does myelin grow back?
Our brains have a natural ability to regenerate myelin. This repair involves special myelin-making cells in the brain called oligodendrocytes. These cells are made from a type of stem cell found in our brains, called oligodendrocyte progenitor cells (OPCs). But as we age, this regeneration happens less.
Can pellucid marginal degeneration cause blindness?
It usually affects both eyes, although one eye can be worse than the other. Although no one can be sure how severe the keratoconus will be in an individual, the condition does not cause blindness. With current management options available most patients should be able to lead a normal lifestyle.
How many people have PMD?
PMD is a rare disorder. Its prevalence in the general population is unknown but estimated as approximately 1 in 100,000 in the USA.