Serious Symptoms Of Ataxia-Telangiectasia

Ataxia-telangiectasia is a neurodegenerative disorder that appears during infancy and childhood years. This condition is known to produce impairments in immune system function, the ability to move, and problems with the skin. Ataxia-telangiectasia is a disorder caused by an inherited genetic mutation from an individual's parents in an autosomal recessive fashion. The affected gene is called the ATM gene and is located on chromosome 11. Only one individual in every 40,000 to 100,000 live births is affected by ataxia-telangiectasia. The diagnosis is made with the use of a physical examination, genetic karyotyping, MRI scans, and blood tests. Treatment for ataxia-telangiectasia focuses on the management of symptoms and the prevention of complications. Antibiotic medications, gamma globulin injections, postural drainage of lungs and bronchial tubes, avoidance of sunlight, vitamin E therapy, Diazepam, genetic counseling, and physical therapy may be part of a patient's treatment plan.

Poor Coordination

A healthy individual's body movements do not require a significant amount of effort and flow together seamlessly, such as throwing a ball, picking up an object, and walking. To produce these movements, muscle groups made of several independent muscles must work together perfectly. Uncoordinated movement and poor coordination describe when there is an interruption in the communication process between the brain, the muscles, and the muscle systems required to produce normal coordinated movements. An individual affected by ataxia-telangiectasia may begin to lose their balance easily when walking and or standing. A patient may lose the ability to perform tasks that require fine motor skills such as pouring a glass of milk, buttoning a shirt, handwriting, or eating with utensils. An individual who has poor coordination due to ataxia-telangiectasia may eventually lose their ability to move their arms and legs.

Small Dilated Blood Vessels

An individual affected by ataxia-telangiectasia may present with small dilated blood vessels or telangiectasias. Small dilated blood vessels appear at the surface of an affected individual's mucous membranes and skin. These small blood vessels appear as red or pink lines that blanch, or turn white when pressure is placed on them. These vessels appear in clusters or alone and typically take on a corkscrew-like shape. The most prevalent areas of the body where small dilated blood vessels form in ataxia-telangiectasia patients are in the whites of the eyes, neck, ears, and extremities. At first, the small dilated blood vessels in a patient's eyes may be mistaken for eyes that are bloodshot as a result of allergies or pink eye. Small dilated blood vessels are a symptom rarely found in infants affected by ataxia-telangiectasia and are not common among very young children who are affected. Areas of skin that are regularly exposed to sunlight are at a greater susceptibility for developing small dilated blood vessels. While this symptom typically does not pose any medical issues for the patient, the telangiectasia may be cosmetically unappealing.

Distorted Speech

Symptoms involving speech tend to occur within the first five years of an ataxia-telangiectasia patient's life. Distorted speech is a symptom that occurs in a patient when the motor component of the motor-speech system has experienced a neurological injury. An inability to physically coordinate the muscles of the neck, head, throat, tongue, lungs, and lips can all contribute to the symptom of distorted speech. The speech of an affected individual may be unintelligible, sound unnatural, and may be inaudible. A patient may have issues with being able to swallow correctly because of ataxia-telangiectasia, which can indirectly cause problems with the way they speak. Problems with the speech in ataxia-telangiectasia patients are not the result of an inability to plan and program the motor-speech system, but rather a problem with the physical function of the motor-speech system itself.

Involuntary Movements

One of the most common forms of involuntary movements in ataxia-telangiectasia patients is abnormalities in the movements of the eyes. An affected individual may experience eye movements that are jerky and involuntary. Their eye movements may be rapid, repetitive, and rhythmic while moving in a circular, vertical, or horizontal direction. An individual affected by ataxia-telangiectasia may develop an involuntary tremor in their hands, which can cause problems when trying to use fine motor skills. The hand tremor may only be present when the patient is attempting to perform a task with their hands. The tremor may also be present or may only be present when they are at rest. The arms in affected individuals may make isolated but rapid movements that are involuntary and beyond their control. All of the involuntary movements that occur in ataxia-telangiectasia patients are the result of problems with the cerebellum and the basal ganglia in the brain.

Issues With Infections

Some individuals affected by ataxia-telangiectasia have a form of immunodeficiency. The most common types of infections found in ataxia-telangiectasia patients include those of the sinuses and lungs that are caused by viruses and bacteria. This immunodeficiency is linked to the inability of the patient's body to produce enough antibodies and low levels of immunoglobulin. Immunoglobulin A is the antibody that helps protect an individual from contracting infections from bacteria and viruses that come in contact with the mucosal surfaces, like the intestinal lining, nasal lining, airway lining, and inside of the cheek. In addition, a problem with the production of antibodies against certain polysaccharides present inside of the bacteria known to cause infections such as pneumonia, sinusitis, and bronchitis, which are often seen in ataxia-telangiectasia patients. Low numbers of B and T lymphocytes are also a contributing factor to the issues with infections in individuals affected by ataxia-telangiectasia. Low levels of IgG, IgM, IgA, and subclasses of IgG are known to cause problems with the production of too little antibodies in patients.