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Ataxia-telangiectasia
Last reviewed: 19.11.2021
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[The causes of ataxia-telangiectasia
It is inherited by autosomal recessive type. Ataxia-telangiectasia is a consequence of the mutation of the gene that codes for ataxia-telangiectasia-mutant (ATM) protein. ATM plays a role in the transduction of mitogenic signals, meiotic recombination, control of the cell cycle.
Symptoms of ataxia-telangiectasia
The onset of manifestations of neurologic symptoms and immunodeficiency can vary. Ataxia is manifested when the child begins to walk. Progression of neurological symptoms leads to severe disruption of motor activity. Speech becomes unclear, choreoathetoid movements and nystagmus are noted, muscle weakness progresses up to muscular atrophy. Teleangiectasias may not appear until 4-6 years; they are best seen on the bulbar conjunctiva, on the ears, on the skin of the ulnar and popliteal fossa, the lateral surfaces of the neck. Recurrent infections of the paranasal sinuses and lungs lead to relapsing pneumonia, bronchiectasis, chronic restrictive lung diseases. Patients have a deficiency of IgA and IgE and progressive disorders of T-lymphocytes. There are endocrine abnormalities, such as gonadal dysgenesis, testicular atrophy, diabetes mellitus.
Diagnosis and treatment of ataxia-telangiectasia
The frequency of malignant neoplasms (leukemia, brain tumors, stomach cancer), chromosome ruptures with DNA repair defects is high. Usually, the serum a-fetoprotein level is elevated.
Therapy includes prescribing antibiotics, BBIL, but there is no effective treatment for CNS abnormalities. Thus, neurologic symptoms progress, leading to death at the age of about 30 years.