Rare Brain Diseases – Diagnosis and Treatment

rare brain diseasesAlthough rare brain diseases may seem incurable, there are still ways to alleviate the effects and provide relief and comfort to patients.

Most of the goals for doctors and families is to alleviate the presenting symptoms and provide enough support for patients to cope with the devastating effects. The approach can be quite helpful if rare brain diseases are studied more thoroughly by patients and families. Understanding how the diseases leads to the effects as well as trying a number of approaches can mean a lot for patients.

Identifying Rare Brain Diseases: Arnold-Chiari Malformation

Arnold-Chiari malformation or Chiari malformation is a brain disorder which involves abnormalities in the structure of the brain. The cerebellar tonsils are positioned in a downward fashion through the opening found at the bottom of the skull, also called the foramen magnum.

Patients usually experience non-communicating hydrocephalus due to the obstruction in the exit of the CSF or cerebrospinal fluid. As a result, the affected individual might experience a variety of symptoms like dysphagia or difficulty swallowing, paralysis, dizziness, fatigue, headaches, nausea, problems in coordination and muscle weakness particularly on the face.

Patients affected with these kinds of rare brain diseases will generally show other symptoms as well like facial pain, tinnitus, headaches, nystagmus, increased pressure inside the skull, dilation of the pupils, involuntary movements of the legs, pain in the face, sleep apnea, problems with the gag reflex, fainting and extreme thirst. These kinds of rare brain diseases will usually require surgery to remove the pressure building up inside the skull.

A shunt can help in the proper flow of the cerebrospinal fluid. In some cases, the spinal cord might be detethered to take some of the pressure and compression off. Decompression surgery is a very sensitive procedure that can also lead to possible risks and complications.

Identifying Rare Brain Diseases: Canavan Disease

Canavan disease or aspartoacylase deficiency is one of the rare brain diseases described as an autosomal recessive disorder that generally affects the nerve cells found inside the brain. The condition is a degenerative cerebreal disease that usually starts during the infancy stage. It is classified under leukodystrophies, which presents the deterioration of the myelin in the phospholipid layer which covers the neuron’s axon.

The gene related with the problem is found on chromosome 17. This is among the rare brain diseases that shows symptoms such as mental retardation, problems in eating or feeding, megalocephaly or enlargement of the head, seizures, blindness, loss of motor skills, paralysis and problems in controlling the head.

These rare brain diseases are incurable. However, doctors would recommend supportive and symptomatic treatment to relieve the patient of the devastating symptoms. It’s important to monitor the activities of the patient to guarantee safety. Doctors might also recommend lithium citrate which will help reduce the N-acetyl aspartate levels to minimize the symptoms. The dosage and timing will be suggested by the doctor after taking tests and observing how the patient responds to initial treatment.

Identifying Rare Brain Diseases: Dandy-Walker Syndrome

Dandy-Walker syndrome or DWS is one of the complex and rare brain diseases that affect the cerebellum as well as the spaces surrounding the region. One of the main characteristics of the disorder is the full or partial absence of the brain part found between the cerebellar vermis. There are two cerebellar hemispheres and the absence of the part between these is known as a genetic problem that affects very few individuals.

According to studies, females are particularly more at risk compared to males. Dandy-Walker syndrome refers to a variety of abnormalities in how the brain develops. There are actually three kinds of DWS. Doctors have to rule out the other possible conditions to guarantee the correct diagnosis.

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As for the treatment of these rare brain diseases, Dandy-Walker syndrome patients should be treated based on the presenting symptoms. A shunt will usually be provided to take out some of the pressure building up inside the skull. Other therapies will also be helpful to support the patient and encourage independence such as occupational therapy, speech therapy and physiotherapy. Parents having the condition should also be aware of the possibility of passing on the condition to their children, although the occurrence of these rare brain diseases is quite rare.

Identifying Rare Brain Diseases: Guillain-Barre Syndrome

Guillain-Barre syndrome or GBS is one of the rare brain diseases are is described as an acute or short term polyneuropathy. The condition will affect the peripheral nervous system of patients.

One of the primary symptoms of the disorder is ascending paralysis wherein body weakness begins at the lower extremities as well as the hands and then slowly moves up to the torso. It is also characterized by problems in the autonomic nervous system. The condition can lead to life-threatening problems especially if the respiratory system is already affected.

Doctors will use a number of diagnostic tests to rule out the possibility of other conditions. Some doctors will immediately provide immunoglobulins and offer a number of therapies to provide independence and alleviate the presenting symptoms of these rare brain diseases.

In all cases of rare brain diseases, supportive treatment is always recommended. There are several instances wherein patients will prefer the therapies and symptomatic treatment more than the actual medications because these give them more strength and encouragement. Some patients with Guillain-Barre syndrome are intubated whenever the respiratory muscles are showing signs of failing. The nervous system should also be relieved from its continuous attacks on the body.

Treating the Rare Brain Diseases

Proper treatment of rare brain diseases usually involves patient education and family information. The patient should take medications and also do the proper activities that will guarantee stability and independence in the long run.

Since many brain disorders are long term or permanent, the patients should be helped when it comes to performing activities of daily living. Occupational therapy will also be helpful in improving their self-confidence. There are other therapists that will be helpful when it comes to providing support for proper movement and maintenance of muscle tone. Record the responses of patients as necessary.