Riley-Day syndrome
Article Abstract:
Riley-Day syndrome is an inherited dysfunction of the autonomic nervous system which occurs only in Jews of Ashkenazi origin. Both parents must be carriers of the gene, but there is a 75% chance of any child of two carriers not inheriting the condition. Common symptoms include poor control of blood pressure and temperature and sensitivity to pain. Scoliosis, eye problems related to tear deficiency, and kidney problems may also occur. Riley-Day syndrome has no cure, but psychological help and medication may help some patients, and health personnel can address, or try to prevent, eye problems.
Publication Name: Nursing Times
Subject: Health
ISSN: 0954-7762
Year: 1999
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Angelman's syndrome
Article Abstract:
Angelman's syndrome is a genetic disorder which was first identified in 1965. The syndrome is characterized by mental disability, lack of speech, ataxia, a stiff gait, flexed arm positions and a happy personality. Many sufferers have convulsions, hyperactivity and unusual sleeping patterns. The condition occurs due to deletion of chromosome 15q-13, but no antenatal test is available. Sufferers will be unable to live independently but specialized teaching can help develop non-verbal forms of communication. Drug therapy will control convulsions and sedatives may be some help.
Publication Name: Nursing Times
Subject: Health
ISSN: 0954-7762
Year: 1998
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In our shadow: Gilles de la Tourette syndrome
Article Abstract:
It is believed that one person in 2,500 in the UK has the complete form of Gilles de la Tourette syndrome, a chronic neuropsychiatric disorder, while others will have the syndrome in a partial form. The syndrome is characterized by involuntary motor activities and vocal outbursts. The source gene has not been identified, and there is therefore no biochemical test to diagnose or screen for the disorder. Non-genetic factors, including low birthweight and prenatal exposure to toxins, may also play a role in causing the condition.
Publication Name: Nursing Times
Subject: Health
ISSN: 0954-7762
Year: 1998
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