Krabbe Disease (KRAB-bee-uh), also known as neonatal grabber is an inherited disease which destroys the outer protective coat (myelin) on nerve cells within the central nervous system and in other parts of the body. In all cases of Krabbe Disease, symptoms and manifestations of this disease occur around the same time, generally from six to nine months. When it first occurs in infants and young children, symptoms and manifestations of the condition usually develop within six months, while in most instances, the condition can develop later in life, developing later in its course and progressing to more severe stages. When it first occurs in elderly individuals, the symptoms and progression of the condition can be significantly delayed.
The cause of Krabbe Disease is not yet known. It is suspected that the genetic factors that are associated with this type of disease, such as an absence of the gene responsible for an enzyme called delta-7-desaturase, are at the root of the development of this disease.
As mentioned earlier, Krabbe Disease primarily affects the nervous system, but the brain can also be affected. In severe cases of this disease, it has been seen to affect the brain, causing memory loss, mental deterioration, impaired decision making, and difficulty in thinking creatively or logically.
There are several types of Krabbe Disease. Some of them involve a specific neurological pathway in the central nervous system which becomes damaged due to the presence of a particular protein, dactin. Other types of KRAH symptoms include severe developmental delays in infants, severe cognitive impairment in adults, visual impairment in middle-aged adults, and seizures.
While no treatment has been found for Krabbe Disease, there have been some advances made in diagnosing it. Early detection and diagnosis are vital in preventing further complications from developing. In addition, the use of drugs and medications such as Riluzan and paclitaxel has shown promising results for reducing the symptoms and reliving the suffering of many infants affected by this condition.
Symptoms of KRAH can be seen in children at an early age. This disease is most common in infants and young children, although there have been reports of the condition occurring in adults as well.
Symptoms can also occur in older adults, although these symptoms may occur later in the course of the illness. However, in the later stages of the condition, there may be limited symptoms. Patients who suffer from Krabbe Disease in later years have reported hearing loss, visual impairment, muscle weakness, difficulty in thinking, and cognitive and behavioral impairment. There are also some patients who report that they do not have any symptoms at all.
The diagnosis of Krabbe Disease is possible through the administration of spinal fluid and/or X-ray examinations. MRI imaging, blood tests, and physical examination can also be performed to rule out any underlying cause of this illness. These tests will help to confirm whether the disease is indeed present and to determine the exact pathophysiology. A thorough history and physical examination are essential in order to establish whether the patient has Krabbe Disease.
Treatment of KRAH involves various options depending on the stage of the disease and whether it has progressed to a more advanced stage. These options involve anti-convulsant drugs, and in severe cases, surgery may be necessary to treat seizures. The anti-convulsant drugs used to treat Krabbe Disease are most effective in the early stages of the disease, whereas surgery usually becomes necessary after the symptoms have progressed to a more serious stage.
There are some effective anti-convulsant drugs, which can be administered orally and in nasal sprays. The anti-convulsant drugs, like Neurontin, Tegretol, and Xenon are known to be effective in the early stages of the condition and are most commonly used for infants with mild-to-moderate forms of KRAH. in the later stages.
In more severe cases, neuroleptic drugs are used to treat seizures and cerebral palsy in adults. In addition, certain medicines such as Lamictal are used to treat seizures and brain damage associated with this condition. Surgery may also be used to treat certain patients of this disease, but this is generally reserved for those patients whose symptoms are so severe that the use of medication does not work or those who are not responding well to conventional medication.
Medications that help to improve the symptoms of KRAH include beta-blockers, anticonvulsants, and antidepressants. Some doctors use immunomodulators in order to treat these symptoms. Anti-convulsants like Lamictal and Tegretol can also be used for individuals whose symptoms have progressed to a more severe stage.
