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Leukodystrophy

Overview

Leukodystrophy refers to a group of rare genetic disorders that affect the brain and spinal cord; it usually demonstrates an autosomal recessive inheritance pattern (both copies of the abnormal gene (from both parents) are required for it to occur). It is characterised 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.

The types of leukodystrophy include:

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

The most common symptoms of leukodystrophy are as follows:

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

Leukodystrophy is caused by impairment of myelin sheaths around neurons, which in turn, is the result of mutations in specific genes. The following risk factors for this condition have been identified:

  • Genetics: It can be inherited from one or both parents. Some ethnicities may have a higher risk of leukodystrophy.
  • Genetic mutations: Genetic mutations can occur randomly when cells divide, or they can be caused by viruses, environmental factors, or a combination of these.
  • 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. 

The following methods are generally used to diagnose leukodystrophy:

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

While there is no cure for this condition, the following methods are often recommended for symptom management and preservation of neurological function:

  • Specific medicines to reduce the incidence of neurological symptoms, such as seizures.
  • The use of feeding tubes for patients with swallowing problems.
  • Supportive care, for e.g., physical or speech therapy, to preserve/maintain motor skills
  • Hormone therapy for resulting hormonal imbalance
  • Stem cell/bone marrow transplantation: In some cases, transplantation may help manage this condition.
  • Gene therapy

Patients are advised to visit their doctor when they notice neurological symptoms, such as cognitive delays, seizures, and/or difficulty in coordination or speech.

While it is not possible to prevent the occurrence of leukodystrophy, proactive genetic testing and counselling can help detect this condition in a timely manner; accordingly, the timely administration of necessary physical/occupational therapy is essential to help control neurological damage and preserve brain function.

Patients with this condition are advised to visit a Neurologist (specialist in brain disorders) or Physiotherapist (if specific physical therapy is needed) and a Genetic Counsellor (for awareness and precautionary measures regarding the detected type of LGMD).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.