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Ataxia-telangiectasia is inherited in an autosomal recessive pattern. Both copies of the ATM gene in each cell have mutations.
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
The ATM protein assists cells in recognizing damaged or broken DNA strands and helps DNA repair by activating enzymes that fix the broken strands.
But mutations in the ATM gene eliminate the function of the ATM protein.
Cells in the part of the brain involved in coordinating movement and balance (the cerebellum) are particularly affected by loss of the ATM protein.
What else can I help you with?
What does ataxia affect?
Ataxia affects coordination and balance in movement. It can cause symptoms such as unsteady gait, clumsiness, and difficulty with fine motor tasks. Ataxia can be caused by various underlying conditions affecting the nerves and brain.
What is ocular motor apraxia?
Ocular motor apraxia is a rare condition where a person has difficulty moving their eyes voluntarily, particularly in initiating or shifting gaze. This can result in jerky movements of the eyes or difficulty following objects with the eyes. It is often associated with neurological conditions such as ataxia-telangiectasia.
Was there ever a case of spinocerebellar ataxia in the Philippines?
Yes, spinocerebellar ataxia cases have been reported in the Philippines. Spinocerebellar ataxia is a rare genetic disorder that affects coordination and movement. Symptoms can vary depending on the type of spinocerebellar ataxia and its severity. Treatment is usually focused on managing symptoms and providing support to patients and their families.
Of what significance is frataxin in Friedreich's ataxia?
extra DNA interferes with normal production of frataxin, thereby impairing iron transport. Normally, there are 10-21 repeats of the frataxin gene. In FA, this sequence may be repeated between 200-900 times.
What is the effect of an error during transcription?
If you mean in DNA transcription: 1. have no effect 2. produce a mutation 3. cause death of the cell in which this is happening
How is ataxia-telangiectasia diagnosed?
Diagnosis relies on recognizing the hallmarks of A-T: progressive ataxia and telangiectasia. However, this may be difficult as ataxia symptoms do appear prior to telangiectasia symptoms by several years
What is ataxia-telangiectasia?
Ataxia-telangiectasia (A-T) is a rare, genetic neurological disorder that progressively affects various systems in the body.
What Genetic disorder is Ataxia-telangiectasia?
It's a rare neurological disorder.
Where does the name ataxia-telangiectasia come from?
The name is a combination of two recognized abnormalities: ataxia (lack of muscle control) and telangiectasia (abnormal dilatation of capillary vessels that often result in tumors and red skin lesions ).
What are the demographics of ataxia-telangiectasia?
Both males and females are equally affected by A-T.
What is a common cause of death for children with ataxia-telangiectasia?
The combination of a weakened immune system and progressive ataxia can ultimately lead to pneumonia as a cause of death.
What is A-T disorder?
Ataxia telangiectasia disorder (also referred to as Louis-Bar syndrome) is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
What has the author Sarah V Butterworth written?
Sarah V. Butterworth has written: 'Studies on ataxia telangiectasia lymphocytes'
How is ataxia-telangiectasia treated?
Physical therapy and speech therapy can help the patient adjust to ataxia. Injections of gamma globulin, or extracts of human blood that contain antibodies, are used to strengthen the weakened immune system
What happens to children with ataxia-telangiectasia?
Children with A-T become unable to feed or dress themselves without assistance. Because of the worsening ataxia, children with A-T lose their ability to write, and speech also becomes slowed and slurred.
How often does ataxia-telangiectasia occur in the population?
it occurs in every population world wide, with an estimated frequency of between 1/40,000 and 1/100,000 live births. But it is believed that many A-T cases, particularly those who die at a young age, are never properly diagnosed
What is the prognosis for patients with ataxia-telangiectasia?
A-T is a fatal condition. Children with A-T become physically disabled by their early teens and typically die by their early 20s, usually from the associated blood cancers and malignancies
