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Leukodystrophies – Causes, Symptoms, Treatments & More…
Fabry’s Disease: What You Should Know | Anjay Rastogi, MD, PhD
What is Leukodystrophy?
Leukodystrophies are a group of rare, genetic disorders affecting the white matter in the brain. Leuko means “white” and dystrophy means “abnormal growth.” Leukodystrophy damages the myelin sheath in the brain which leads to improper communication between the brain and other parts of the body. Most leukodystrophies are neurodegenerative and progressive thereby worsening the condition with time. Very few leukodystrophies have a treatment or cure.
At present, there are nearly 50 identified leukodystrophies although many are still unclassified. The most common types are:
- Aicardi-Goutieres syndrome
- Alexander disease
- Canavan disease
- Fabry disease
- GM1 gangliosidosis
- Krabbe disease
- Sjogren-Larsson syndrome
Each type of leukodystrophy affects a different part of the myelin sheath leading to different neurological problems in each type.
- Problems with motor skills like standing and walking
- Cognitive loss
- Regression of developmental milestones like loss of speech
- Trouble walking or standing
- Trouble with speech
- Decline of vision and hearing
- Regressive mental development
- Trouble with eating and swallowing
- physical examination to check for muscle wasting and weakness
- MRI for detailed imaging of the brain
- nerve conduction tests
- genetic testing – to check for various genotypes
Currently, no specific treatment or cure is available for the leukodystrophies except for Fabry disease and ALD. Fabry disease is currently treatable with enzyme replacement therapy (ERT) with enzyme agalsidase beta. This is given through intravenous infusion every 15 days to prevent further physical and cognitive decline. ALD if diagnosed early can be halted with bone marrow transplant (BMT) which can prevent further neurological decline.
For the rest of the leukodystrophies, treatment is aimed at preventing complications and enabling independent living. An interdisciplinary team of doctors including pediatricians, neurologists, orthopedicians, pulmonologists and physiotherapists will be required to take care of the clinical needs of the child/adult. In the early stages when just diagnosed, it is important to immediately start physiotherapy and rehab to prevent further deterioration and maintain a certain level of mobility.
Physiotherapy is highly recommended to preserve muscle strength. Wheelchairs may be required in some cases. Adaptive devices are also useful to perform daily tasks.
If there is a known case of leukodystrophy in the family, it is absolutely essential for closest female relatives like siblings, uncles, aunts and cousins to test for carrier status.
If a woman with a carrier status is pregnant, prenatal test is essential to determine if the fetus has the disease mutation.