Disease
Krabbe Disease
Overview of Krabbe Disease
Krabbe Disease, also known as globoid cell leukodystrophy, is a rare and often fatal inherited condition that affects the nervous system.
It is caused by the deficiency of an important enzyme due to a mutation in the GALC gene, which leads to the buildup of harmful substances in the brain and spinal cord.
These substances damage the protective myelin sheath surrounding nerves, leading to severe neurological symptoms.
The disease usually appears in infants, although later-onset forms can occur.
Types of Krabbe Disease
- Infantile Krabbe Disease: The most common and severe form, appearing within the first 6 months of life.
- Late-onset Krabbe Disease: Can appear in older children, teens, or adults, with a slower progression.
- Juvenile Krabbe Disease: Symptoms emerge between ages 3 and 10, with moderate progression.
Symptoms of Krabbe Disease
- Developmental delays or regression in infants
- Muscle stiffness and spasms
- Feeding difficulties and irritability
- Vision loss and blindness
- Seizures in advanced stages
- Loss of head control and difficulty in movement
- Breathing complications as disease progresses
Causes of Krabbe Disease
- Mutation in the GALC gene, responsible for producing the enzyme galactocerebrosidase
- Deficiency of this enzyme leads to toxic buildup of psychosine, which destroys myelin
- Inherited in an autosomal recessive pattern, both parents must be carriers
Complications in Krabbe Disease
- Progressive brain damage
- Severe muscle weakness and paralysis
- Vision and hearing loss
- Seizures that may be difficult to control
- Respiratory failure in advanced stages
- Early death in most infantile cases
Risk Factors of Krabbe Disease
- Family history of Krabbe or globoid leukodystrophy
- Consanguineous marriages increasing the risk of autosomal recessive disorders
- Parents carrying GALC gene mutations
Preventions of Krabbe Disease
- Genetic counseling for couples with a family history
- Carrier screening before conception
- Prenatal genetic testing for early detection in pregnancies at risk
- Awareness in populations with higher incidence of GALC mutations
Diagnosis of Krabbe Disease
- Newborn screening in some countries
- Blood tests to measure enzyme activity
- Molecular genetic testing for GALC gene mutations
- MRI showing loss of myelin (leukodystrophy)
- Nerve conduction studies to assess peripheral nerve function
Treatments of Krabbe Disease
- Hematopoietic Stem Cell Transplant (HSCT) — can slow progression if done early
- Supportive care for managing symptoms (seizures, muscle stiffness, feeding issues)
- Occupational and physical therapy to improve mobility and function
- Nutritional support, feeding tubes if necessary
- No definitive cure currently available
- Experimental gene therapy and enzyme replacement are being researched
Prognosis of Krabbe Disease
- Infantile form: Often fatal before age 2 without early intervention
- Late-onset forms: Slower progression, variable outcomes
- Early diagnosis and HSCT may improve lifespan and quality of life
- Most affected individuals eventually lose mobility and cognitive function
Care at MyhealthMydoctor
- Multidisciplinary evaluation for timely diagnosis
- Access to genetic counselors, neurologists, and pediatric specialists
- Guidance for stem cell transplant centers
- Post-transplant rehabilitation and long-term care planning
- Compassionate, family-centered support throughout the journey
Some Important Questions Patients Should Ask Their Doctor During a Consultation
- Can this disease be cured?
- What is the life expectancy for my child?
- Are there any clinical trials for gene therapy?
- Is stem cell transplant available in India?
- What can we do to delay disease progression?
- Can both parents be tested for carrier status?
- What support systems are available after diagnosis?
What Patients Expect from Doctors During Consultation?
- Honest and clear explanation of the condition
- Detailed review of diagnosis and treatment options
- Genetic counseling for family planning
- Information about clinical trials or transplant facilities
- Emotional support and compassionate communication
- Long-term management strategies and rehabilitation plans