This fact sheet provides information about Krabbe disease, its frequency, signs and symptoms,and types.
Leukodystrophies are a group of disorders that involve the destruction of myelin. Myelin is a fatty covering that is used by the body to insulate nerve fibres and helps to promote rapid transmission of nerve impulses through the nervous system. If there is a problem with the myelin, as is the case in leukodystrophies, nerve impulses can be disrupted, leading to an impairment of the nervous system.
Diagnosis
Diagnosis will depend on the type of leukodystrophy, and often will need a number of specialists to be involved, including neurologists, and geneticists. The diagnostic methods vary between types, some of these include:
- Physical examination
- Blood testing
- Urine testing
- Genetic testing
- MRI
- Nerve conduction testing
Signs and Symptoms
- Vary by disease (see below)
Treatment
No specific therapy is currently available to treat these disorders. Management is generally supportive and includes a multitude of medical participants including physicians, occupational therapists, physiotherapists and many more.
A type specific to section 24 of the NDIS Act
Krabbe disease (globoid cell dystrophy)
Krabbe disease is an inherited neurological disorder that results from a defect in the GALC gene which provides instructions for the production of an enzyme called galactosylceramidase. Galactosylceramidase, under normal circumstances, is responsible for breaking down a type of fat called galactolipids, which form part of the myelin in neurons.
A reduction in the activity of this enzyme leads to build-up in certain cells, forming globoid cells and ultimately to the demyelination (damage to the protective coat) of neurons.
Signs of the disease generally become apparent during the first year of life, and people with the infantile form rarely survive beyond the age of two.
Frequency
Krabbe disease affects approximately 1 in 100, 000 people.
Signs and Symptoms
- Irritability
- Muscle weakness
- Feeding difficulty
- Episodes of fever with no specific sign of infection
- Stiff posture
- Intellectual disability
- Developmental delay
As the disease progresses:
- Difficulty moving, chewing, swallowing, and breathing
- Vision loss
- Seizure
- Nerve pain in the hands and feet
Types
- Infantile [begins between 3-6 months of age]
- Late infantile [begins between 6 months – 3 years of age]
- Juvenile [begins between 3 to 8 years of age]
- Adult onset [begins after 8 years of age]
References:
Krabbe Disease (2019). Retrieved from https://ghr.nlm.nih.gov/condition/krabbe-disease#statistics
Krabbe Disease (2019). Retrieved from http://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/krabbe-disease
