Rare Genetic Disease Resembles Cerebral Palsy

A rare degenerative disorder that causes the deterioration of coordination, motor sills, and cognitive functioning is often misdiagnosed as cerebral palsy.

Pelizaeus-Merzbacher disease is extremely uncommon, affecting approximately one in 300,000 people. Unlike cerebral palsy, Pelizaeus-Merzbacher is a progressive disease that in severe cases can be fatal.

Neurologist James Garben said the disease is frequently confused for cerebral palsy because the symptoms are similar, including poor motor and cognitive skills. However, children with Pelizaeus-Merzbacher have a characteristic not found in children with cerebral palsy – involuntary eye movement.

The involuntary rhythmic movement of the eye, in which the eyes move rapidly in one direction and then slowly in another, is a telltale symptom in patients with the disease and is usually evident within the first year.

Currently, only two labs in the country are equipped to test for all forms of the disease – duPont Hospital for Children in Rockland, DE and Baylor College of Medicine in Houston, TX.

The disease belongs to a group of disorders known as leukodystrophies and is inherited. No cure is available, but as with cerebral palsy and similar conditions, certain treatments can help to reduce symptoms.

If your child's cerebral palsy condition was misdiagnosed, contact a cerebral palsy lawyer who can help you obtain compensation for the medical mistake.