Name of a rare degenerative neurological disease that is diagnosed in childhood?

rare diseases
Sarah R

Hi my cousin has just been diagnosed with a rare neurological degenerative disorder, but no one in my family seems to be able to tell me the name.

It’s commonly diagnosed in early childhood (around 8 years old) and she’s been given a life expectancy of around 16 years old.

Symptoms include loss of mobility starting in the limbs.

If anyone has heard of a disorder like this I would appreciate a name – some information, anything.

Thanks

The Hidden Secret

2 Comments so far

  1. kimgarnto on November 15th, 2008

    It sounds like muscular dystrophy. Not sure. Need more info.

  2. katie k on November 16th, 2008

    Periventricular Leukomalacia – (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body’s muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.

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