Krabbe disease Treatment in Hyderabad

overview

Krabbe disease (KRAH-buh) is a hereditary disease that destroys the protective layer (myelin) of nerve cells in the brain and in the entire nervous system.

In most cases, the signs and symptoms of Crab Disease in babies develop before 6 months of age, and the disease usually results in death by 2 years of age. If it develops in older children and adults, the course of the disease can vary widely.

There is no cure for crab disease and treatment focuses on supportive care. However, stem cell transplants have shown some success in infants treated before symptoms appear and in some older children and adults. Krabbe disease Treatment in Hyderabad

symptoms

In most cases, the signs and symptoms of Krabbe disease appear within the first 2 to 5 months of life. You start gradually and gradually.

Toddlers Common signs and symptoms at the onset of the disease are:

The reasons

Krabbe disease is caused when a person inherits two copies of an altered (mutated) gene – one copy from each parent.

A gene provides a kind of model for the production of proteins. If there is a flaw in this plan, the protein product may not work properly. In the case of Krabbe disease, two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase (GALC). Krabbe disease Treatment in Hyderabad

Risk factors

Autosomal recessive inheritance model
Autosomal Recessive Inheritance PatternOpen Context Dialog
The gene mutation associated with Krabbe disease only causes the disease when two mutated copies of the gene are inherited. A disease that results from two mutated copies is known as an autosomal recessive disorder.

If every parent has a mutated copy of the gene, the risk to a child would be as follows:

Complications

A number of complications – including infection and breathing difficulties – can occur in children with advanced Krabbe disease. In the later stages of the disease, children become incapacitated, confined to their beds, and eventually develop into a vegetative state. Krabbe disease Treatment in Hyderabad

Most children who develop Krabbe’s disease in childhood die before age 2, mostly from respiratory failure or complications of immobility and a marked decrease in muscle tone.

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