Therapy

There is no effective therapy for the progressive ataxia. Spasticity can be controlled in some patients with bromocriptine; however, the safety of this medication has not been established for children under 15 years. Valium has been used to ameliorate chronic jerks and tremors but its effects are short-lived. Vitamin E (a-tocopherol) is sometimes prescribed to minimize nonspecific free-radical damage to tissue, although its efficacy is unproven. Immunotherapy is only indicated for patients with frequent recurring infections. Intravenous gamma globulin is effective in reducing the frequency and severity of infections in such patients. Conventional dosages of radiation therapy and radiomimetic agents are contraindicated and life-threatening.

Physical activities such as swimming and calas-thenics maintain muscle tone, prevent fractures and slow the side-effects of long-term confinement to a wheelchair - most notably, contractions of hands and feet. Speech therapy helps articulation and voice volume. Good pulmonary hygiene and regular breathing exercises minimize lung impairment, although there is a bit of evidence that the lungs of AT patients may be anatomically compromised by the disease itself. Parental counselling is of paramount importance in alleviating confusion and anxiety. Bringing members of AT families together periodically as a de facto support group is also effective therapy. Prenatal diagnosis is now feasible and is quite accurate, with a turnabout time of 1-2 weeks.

See also: Chromosome translocations of immune genes; Immunodeficiency, primary.

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