Boder Syndrome

Definition

Definition of Boder Syndrome
Boder Syndrome is also known as Ataxia Telangiectasia (A-T) (Boder-Sedgwick syndrome). The other name for the disease is Louis–Bar syndrome. It is rare disease and affects several part of the body resulting in disability. The syndrome is also known a poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. The syndrome first appears in childhood as most of the children suffer with low immunity during the period.

Symptoms

Symptoms of Boder Syndrome
Some of the symptoms of Boder Syndrome are mentioned below:

1. Hyper-sensitivity to ionizing radiation
2. Increased incidence of malignancies (primarily hematologic).
3. Raised alpha-fetoprotein levels.
4. Absent thymic shadow on X-ray.
5. Ovarian dysgenesis
6. Early-onset progressive cerebellar ataxia (difficulty with control of movement)
7. Ocular apraxia (difficulty following objects across visual field)
8. Telangiectasias of the eyes and skin
9. Immunodeficiency, low immunoglobulin concentrations
10. Chromosomal instability

Causes

Causes of Boder Syndrome
Consult with your doctor.

Diagnosis

Diagnosis of Boder Syndrome
The disease can be well identified by :

1. Examination and identification of both ataxia and oculo-telangiectasia or skin telangiectasia
2. Followed by laboratory tests for serum AFP level
3. Cytogenetic and molecular testing confirm
4. MRI and CT SCAN
5. Protein functionality testing

Treatment

Treatment of Boder Syndrome
Unfortunately, there is no complete heal for the disease but, individual symptoms may be treated appropriately. Physiotherapy and exercises may help in improving bodily movement. The immune system weakening can be prevented by occasional shots of gamma-globulin. These are artificially created antibodies that help increase the resistance of their body. Vitamin supplements are also essential.

If patients affected by this condition are also affected by cancer, treatment with radiation is avoided due to their sensitivity to radiation; and chemotherapy is preferred.

Prognosis

Prognosis of Boder Syndrome
Consult with your doctor.

Prevention

Prevention of Boder Syndrome
Consult with your doctor.