Pelizaeus–Merzbacher disease

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Pelizaeus–Merzbacher disease
X-linked recessive (carrier mother).svg
Synonyms PMD
Pronounce
Specialty Neurology
Symptoms Nystagmus, hypotonia, spasticity, ataxia, developmental delay
Complications N/A
Onset Infancy
Duration Lifelong
Types N/A
Causes Mutations in the PLP1 gene
Risks Family history of the condition
Diagnosis Genetic testing, MRI
Differential diagnosis Multiple sclerosis, leukodystrophy
Prevention N/A
Treatment Supportive care, physical therapy, occupational therapy
Medication Baclofen, diazepam for spasticity
Prognosis Varies; generally progressive
Frequency Rare
Deaths


Pelizaeus–Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. It is one of a group of genetic disorders known as leukodystrophies, which are characterized by the degeneration of myelin, the fatty covering that insulates nerve fibers in the brain and spinal cord.

Classification[edit | edit source]

Pelizaeus–Merzbacher disease is classified into several types based on the severity and age of onset:

  • Classic PMD: The most common form, presenting in early infancy.
  • Connatal PMD: A more severe form, presenting at birth or shortly thereafter.
  • Transitional PMD: Intermediate severity, with symptoms appearing in late infancy or early childhood.
  • Adult PMD: A rare form with symptoms appearing in adulthood.

Symptoms[edit | edit source]

The symptoms of PMD vary depending on the type but generally include:

  • Nystagmus (involuntary eye movement)
  • Hypotonia (reduced muscle tone)
  • Ataxia (lack of muscle coordination)
  • Spasticity (stiff or rigid muscles)
  • Delayed motor skills development
  • Cognitive impairment

Genetics[edit | edit source]

Pelizaeus–Merzbacher disease is caused by mutations in the PLP1 gene located on the X chromosome. This gene is responsible for producing proteolipid protein 1, a critical component of myelin. PMD is inherited in an X-linked recessive pattern, meaning that males are more frequently affected, while females are typically carriers.

Diagnosis[edit | edit source]

Diagnosis of PMD involves a combination of clinical evaluation, magnetic resonance imaging (MRI) to detect abnormalities in the brain's white matter, and genetic testing to identify mutations in the PLP1 gene.

Treatment[edit | edit source]

There is currently no cure for Pelizaeus–Merzbacher disease. Treatment focuses on managing symptoms and may include:

Prognosis[edit | edit source]

The prognosis for individuals with PMD varies depending on the type and severity of the disease. While some individuals may have a relatively stable course, others may experience significant deterioration in motor and cognitive functions.

See also[edit | edit source]

Template:Leukodystrophy

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Contributors: Prab R. Tumpati, MD