CANAVAN DISEASE

Overview & Facts

  • A gene-linked neurological disorder that results in brain tissue degeneration.
  • Caused by genetic disorder that causes oligodendrocytes to remain immature and then die.
    • Incomplete myelin sheath synthesis.

Types & Symptoms

Symptoms usually appear during first 3 to 6 months of life with rapid progression progress rapidly. They are as follows:

  • Lack of motor development
  • Abnormal muscle tone
  • Difficulty feeding
  • Macrocephaly (abnormally large head) with poor muscle control

Some children develop:

  • Paralysis
  • Blindness
  • Hearing loss

Diagnosis & Medications

DIAGNOSIS

  • Physician may do/request:
    • History & Physical Exam
    • CT scan or MRI scan
    • Urine/blood/cerebrospinal fluid test: To look for increased N-acetyl-L-aspartate (NAA)
    • Genetic testing for aspartoacylase gene mutations
      • Prenatal genetic diagnosis is possible by this method
      • Genetic counseling is recommended for parents with family history of Canavan Disease.
        • Parental Screening can be done to see if they are carriers of the disease.

 

RECOMMENDED MEDICATIONS

  • No cure or standard treatment
    • Treatment is symptomatic and supportive.
      • Death usually occurs before age 10 (some live up to early 20s)
      • Poor prognosis

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