PelizaeusMerzbacher Disease

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Pelizaeus-Merzbacher Disease

• Holly Hammer

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Pelizaeus-Merzbacher Disease

• AKA PMD

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Mode of Inheritance

• Pelizaeus-Merzbacher Disease is a gene linked
  disorder.
• X-Linked.
• It is a recessive trait.
• It is a rare disease.

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• PMD is a result of little or no myelin, which
  allows an impulse to travel from one nerve to
  another

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Punnett Square of PMD

• Only the mother has to be a carrier since males
  only have one X chromosome.

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Symptoms of the Disorder and Detection

• Involuntary oscillatory movements of the eyes
  called nystagmus.
• Hypotonia floppy muscles.
• Spasticity- stiff muscles.
• Stridor- noisy, labored breathing.

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Detection

• Polymerase chain reaction to amplify a specific
  region of a gene.
• FISH fluorescent
• in situ hybridization. Uses a probe that sticks
  to the PLP1 gene. A microscope can see where the
  probe on the inside of the nucleus of a cell
  because the probe is fluorescent.

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Prognosis

• Usually, death occurs during childhood, however
  there are some that have survived well into their
  sixties.

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Treatments

• Treatment is available for some of the side
  effects of PMD such as seizures stiffness and
  spasticity.

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Current Research

• Researchers in America and Europe are currently
  researching PMD to find preventatives and
  treatment.

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Genetic Counseling

• Tests can be performed to determine whether one
  of the parents is a carrier of PMD.

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FACTS

• A German physician, Pelizaus, did a study in 1885
  of five boys from a single family with limited
  head and trunk control.
• In 1910 another German physician, Merzbacher,
  studied the family again, which now consisted of
  14 affected individuals including two girls.
• This case was the basis for the prognosis of PMD.

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Credits

• www.pmdfoundation.org