About The Medical Condition Ataxia Telangiectasia Syndrome
Find the definition of the medical term Ataxia Telangiectasia Syndrome. Ataxia Telangiectasia Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Ataxia Telangiectasia Syndrome
| Ataxia Telangiectasia Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Ataxia Telangiectasia Syndrome?
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, dysarthria, B- and T-cell immunodeficiency, and sensitivity to ionizing radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder has been mapped to the long arm of chromosome 11 (11q22.3).
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Nerve, Ophthalmic ‐ A sensory branch of the trigeminal (5th cranial) nerve. The ophthalmic…
- Malformation, Arnold-Chiari ‐ A group of congenital malformations involving the brainstem,…
- Alpha-Immunoglobulin ‐ Heavy chains found in the Fab and Fc fragments of IMMUNOGLOBULIN…
- Thyroiditides, Autoimmune ‐ Progressive enlargement of the thyroid gland, often associated…
- Artificial Heart ‐ A pumping mechanism that duplicates the output, rate, and blood…
- Progressive Paraparesis, Chronic ‐ Mild to moderate loss of bilateral lower extremity motor function,…
- Cells, Oxyntic ‐ Cells of the gastric glands which secrete hydrochloric acid and…
- Practice Patterns, Clinical ‐ Patterns of practice related to diagnosis and treatment as especially…
- Staff Workloads ‐ The total amount of work to be performed by an individual, a…
- Renographies, Radioisotope ‐ Graphic tracing over a time period of radioactivity measured…