What is ATLD?

What is ATLD?

Ataxia-Telangiectasia-Like Disorder (ATLD) is a very rare DNA repair defect that is also associated progressive cerebellar ataxia, radiosensitivity, and immunodeficiency. This condition is due to mutations in the hMRE11 gene.

What are the symptoms of Louis Bar syndrome?

Onset usually occurs between 1 and 2 years of age with abnormal head movements and loss of balance, followed by slurred speech and abnormal eye movements. Poor coordination and trembling of the extremities may appear towards 9-10 years of age and worsen progressively. Choreoathetosis is quite common.

What are the symptoms of ataxia telangiectasia?

Symptoms include:

  • Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness.
  • Decreasing mental development, slows or stops after age 10 to 12.
  • Delayed walking.
  • Discoloration of skin areas exposed to sunlight.

How does ataxia telangiectasia affect the body?

People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia ) and cancer of immune system cells (lymphoma ).

What age does Lewy body dementia start?

Lewy body dementia is one of the most common causes of dementia. LBD affects more than 1 million individuals in the United States. People typically show symptoms at age 50 or older, although sometimes younger people have LBD. LBD appears to affect slightly more men than women.

What are the symptoms of a damaged cerebellum?

Damage to the cerebellum can lead to: 1) loss of coordination of motor movement (asynergia), 2) the inability to judge distance and when to stop (dysmetria), 3) the inability to perform rapid alternating movements (adiadochokinesia), 4) movement tremors (intention tremor), 5) staggering, wide based walking (ataxic gait …

How do you test for ataxia telangiectasia?

A diagnosis of ataxia telangiectasia is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic symptoms, and a variety of specialized tests including blood tests, magnetic resonance imaging (MRI), and karyotyping.

How long can you live with ataxia telangiectasia?

Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced vulnerability to cancer and infection. Median survival in two large cohorts of patients with this disease, one prospective and one retrospective, is 25 and 19 years, with a wide range.

What kind of mental disorder makes you sick?

This scary mental disorder is characterized by an obsession with being sick. In fact, most people with Factitious Disorder intentionally make themselves ill in order to receive treatment (this makes it different than hypochondria).

What kind of mental disorder does Alice in Wonderland have?

Alice in Wonderland may be pure fantasy, but one of Alice’s more bizarre experiences shares its characteristics with a scary mental disorder. Known also as Todd Syndrome, Alice in Wonderland Syndrome causes one’s surroundings to appear distorted.

What’s the name of the disorder that makes you want to amputate Your Body?

Known also as Body Integrity Disorder and Amputee Identity Disorder, Apotemnophilia is a neurological disorder characterized by the overwhelming desire to amputate or damage healthy parts of the body.