Symptoms of Ataxia Telangiectasia

Symptoms of ataxia telangiectasia weaken the immune system in nearly 70 percent of the cases increasing the risk of cancer. The condition however is a rare (3 per million), neurodegenerative and inherited disease which affects many parts of the body.

Though the symptoms start appearing in the toddler stage, they are not diagnosed until the passing of some years. This article tries to gain further insight on the signs of this rare ailment.

Symptoms of Ataxia Telangiectasia:

  • Balance difficulty
  • Slurred speech
  • Lack of muscle control
  • Coordination problems
  • Slowed growth
  • Recurrent bronchitis
  • Drooling
  • Recurrent pneumonia
  • Susceptibility of chronic lung infections
  • Premature graying
  • Sad facial expression
  • Difficulty swallowing
  • Recurrent respiratory infections
  • Increased susceptibility to respiratory infections
  • Immune suppression
  • Impaired immunity
  • Weak immune system
  • Mental deficiency
  • Red spider veins
  • Reddish mouth lesions
  • Reddish skin lesions
  • Clumsiness
  • Seizures
  • Stooped posture
  • Clusters of swollen blood vessels in the eye
  • Inflamed mucous membrane
  • Clusters of swollen blood vessels on the skin
  • Progressive deterioration
  • Hypoplasia of tonsils – Abnormal increase in the number of cells in the organ tonsils leading to its enlargement
  • Lymphopenia – abnormally small number of lymphocytes. These are a type of white blood cells which protect the body from external and internal threats
  • Fixation nystagmus – Abnormal eye movement
  • Hypoplasia of adenoid lymphoid tissue – Incomplete development of these organs
  • Telangiectasias – A condontion associated with small dilated blood vessels near the surface of the skin
  • Choreoathetosis – Irregular and involuntary movements involving the face, neck, trunk, extremities or respiratory muscles along with restlessness
  • Cerebellar atrophy – Wasting away of the tissues of the cerebellum

Diagnosis of Symptoms of Ataxia Telangiectasia:

Laboratory tests are carried out to look for serum AFP level. Level of ATM protein and the response of white blood cells to X-rays are found. MRI, CT scans and direct gene analysis reveal the signs of cerebellar atrophy.

Leave a reply

Your email address will not be published. Required fields are marked *