ATAXIA TELANGIECTASIA HEREDITARIA PDF

Ataxia-telangiectasia is also known as Louis-Bar syndrome. What causes ataxia telangiectasia? Ataxia-telangiectasia is an autosomal recessive disease in which one ataxia-telangiectasia gene has been inherited from each parent. Carriers of ataxia-telangiectasia with one ataxia-telangiectasia gene and one normal gene do not show any signs of the disease themselves. Inactivating mutations of the ATM gene are located on chromosome band 11q

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Las causas de la ataxia son: Traumatismo craneal. Accidente cerebrovascular. Enfermedades autoinmunitarias. Normalmente, la ataxia se resuelve con el tiempo. Es importante identificarlos porque, a menudo, los efectos son reversibles.

La falta de estos nutrientes por no poder absorber suficiente cantidad, por abuso de alcohol o por otros motivos puede provocar ataxia. Ataxias hereditarias Algunos tipos de ataxia y algunas enfermedades que causan la ataxia son hereditarias. Solo se necesita un gen mutado para ser portador de este tipo de trastorno. Algunos de ellos son: Ataxias espinocerebelosas. Estos trastornos suelen transmitirse por dos portadores.

Algunos de ellos son: Ataxia de Friedreich. La enfermedad normalmente avanza hacia los brazos y el tronco. Ataxia telangiectasia.

Por lo general, los primeros indicios de la enfermedad son el retraso en el desarrollo de las actividades motrices, el equilibrio deficiente y el balbuceo.

Las infecciones respiratorias y de los senos paranasales recurrentes ocurren con frecuencia. Enfermedad de Wilson.

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Ataxia telangiectasia

Description Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements ataxia beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements chorea , muscle twitches myoclonus , and disturbances in nerve function neuropathy. The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side oculomotor apraxia.

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Ataxia-Telangiectasia

The risk is relatively low about 2—4 times greater than the general population. What are other physical findings seen in people with ataxia-telangiectasia? People with ataxia-telangiectasia may have other medical concerns. Not all people with ataxia-telangiectasia will have all the physical findings listed below. These physical findings vary from person to person. Weakened immune system resulting in infections more often Sensitive to ionizing radiation such as the radiation used for CT scans and medical X-rays Premature aging with graying of the hair Abnormal endocrine hormone system, including type 2 diabetes, short stature and delayed puberty Mild learning problems or mild intellectual disability Smaller-than-normal cerebellum a part of the brain , which can be seen on an MRI exam after the age of about 7 or 8 years Shortened life span most patients live into their 20s; some patients live into their 40s or 50s How severe the signs and symptoms of ataxia- telangiectasia are may vary between families.

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Ataxia-telangiectasia

Las causas de la ataxia son: Traumatismo craneal. Accidente cerebrovascular. Enfermedades autoinmunitarias. Normalmente, la ataxia se resuelve con el tiempo. Es importante identificarlos porque, a menudo, los efectos son reversibles. La falta de estos nutrientes por no poder absorber suficiente cantidad, por abuso de alcohol o por otros motivos puede provocar ataxia. Ataxias hereditarias Algunos tipos de ataxia y algunas enfermedades que causan la ataxia son hereditarias.

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