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Leukodystrophy

Overview

Leukodystrophy refers to a group of rare genetic disorders that affect the brain and spinal cord. It is characterized by the progressive destruction of the myelin sheath, the covering over the nerves that helps the nerves to conduct faster. Damage to the myelin sheath disrupts the transmission of nerve signals, leading to various neurological symptoms.

  • Krabbe disease
  • Metachromatic leukodystrophy (MLD)
  • Globoid cell leukodystrophy (GLD)
  • Adrenoleukodystrophy (ALD)
  • Peroxisomal biogenesis disorders (PBDs)
  • Refsum disease
  • Cerebrotendinous xanthomatosis (CTX)

Leukodystrophies are usually inherited in an autosomal recessive pattern and are caused by mutations in specific genes.

  • Genetics: It can be inherited from one or both parents. Some ethnicities may have a higher risk of leukodystrophy.
  • Sex: Some types of leukodystrophy affect only men, while others affect men and women equally.
  • Age: Many types of leukodystrophy are more common in children, but some can affect both children and adults.
  • Genetic mutations: Genetic mutations can occur randomly when cells divide, or they can be caused by viruses, environmental factors, or a combination of these.

  • Vision loss
  • Hearing loss
  • Seizures
  • Cognitive decline
  • Muscle weakness or paralysis
  • Difficulty in coordination and balance
  • Difficulty in speech and language
  • Developmental delays

Neurologist

  • Clinical examination
  • MRI brain and spinal cord
  • Genetic testing depending on the specific pattern of involvement of brain

  • Stem cell transplantation
  • Gene therapy
  • Supportive care
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