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Krabbe disease
What are the symptoms?
Krabbe disease is a very variable condition and the extent to which individuals are affected by their symptoms also varies. The onset of Krabbe disease usually occurs between three to six months. Features include loss of developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden shock-like contractions of the limbs), blindness, spasticity (stiffness of the limbs) paralysis and weight loss. There are three stages of the disorder. Stage I is characterised by general irritability, stiffness, arrest of motor and mental development, and episodes of high temperature without the presence of an infection. During Stage II infants may have severe arching of the back and have myoclonic-like jerks of arms and legs, hypertonic fits, bouts of fever and regression of learned skills. In Stage III infants are severely impaired with no voluntary movement. Sadly, the average age of death is between thirteen months to two years, although this may be earlier due to infections and respiratory failure.
In addition to the infantile form of Krabbe disease, there are also juvenile and adult forms. Although older infants and juveniles with the disorder regress at an unpredictable rate, all will become severely incapacitated. Some adolescents and adults have symptoms confined to weakness, without intellectual deterioration, others become bedridden and continue to deteriorate mentally and physically. Adults may present with loss in manual dexterity, burning paraesthesia (numbness or tingling) in extremities, weakness and dementia. It is nearly impossible to predict the life expectancy of a newly diagnosed older infantile, juvenile, adolescent or adult patient.
Background
| What are the causes? 
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