DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Genetic diseases
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.
Genetic diseases - List of case studies
- Psychomotor retardation due to spinal amyotrophy
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research towards the cure for muscular dystrophy and other genetic diseases. FTELE has created and manages four research Institutes (intramural ...
- Motor Neuropathy
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Hospital at theout-patients Department for Motor Neuron Diseases on 01/2008; during the Day hospital a sample was taken for thyroid ... antigangliosides antibodies, auto-antibody asset and genetic investigation for SOD 1 (see enclosed documentation no. 1). Further ...
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
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hormones normal. X rays were done her bone age and diseases (see enclosed). We were told they were unconclusive. We were ... • Cockayne Syndrome negative • Check of many genetic disorders done in the US (see attached) found nothing as well. ...
- Multiple miscarriages
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4 miscarriages with a thorough investigation, including genetic, anatomic, immune and thrombophilic testing. Nothing of significance ... There is no personal history of thrombotic and autoimmune diseases. Medical diagnosis and summary of pregnancies: ...
- Motor Neuropathy – additional opinion
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Hospital at theout-patients Department for Motor Neuron Diseases on 01/2008; during the Day hospital a sample was taken for thyroid ... antigangliosides antibodies, auto-antibody asset and genetic investigation for SOD 1 (see enclosed documentation no. 1). ...